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G-Mendeliome Disease-Specific Panel

Comprehensive analysis to Identify 17 disease in a single NGS reaction with proven clinical usage

Overview
Features & Benefits
Specification
Related Products
Resources
References
Overview
Features & Benefits
Specification
Related Products
Resources
References

Overview

G-Mendeliome Disease-specific 패널을 통해 최대 17개 유전 질환에 대한 검사를 한 번에 수행할 수 있습니다

Celemics’ G-Mendeliome Disease-specific 패널은 Cardiology, Neurology, Cancer 등 다양한 분야의 17개 유전질환에 연관 있는 유전자들을 검사하기 위한 개별 패널을 모은 것입니다. 

유수의 수탁검사기관과의 협업으로 활용도 높도록 개발하였으며, Gene Add-on 서비스를 통해 원하는 유전자를 추가하여 연구자들 개개인의 연구 목적에 맞춰 보다 폭넓게 사용할 수 있습니다. BI 분석 서비스를 통해 손쉽게 분석 결과를 받을 수 있습니다.

Disease Specific

Features & Benefits

다양한 유전 질환 관련 유전자 포함

본 패널을 다음과 같은 유전 질환과 연관 있는 것으로 알려진 유전자들을 포함하고 있습니다.: AML, ALL, Multiple Myeloma, Lymphoma, Hearing Loss, Hereditary Cancer Syndrome, Arrhythmia, Cardiomyopathy, Muscular Dystrophy, Charcot-marie-tooth, Spastic Paraplegia, Myopathy, Ataxia, Epilepsy, Parkinson, Alzheimer, Dementia, 및 Dystonia.

Disease Specific

유수의 수탁검사기관과의 협업으로 개발

본 패널들은 진단에 활용하기 위한 목적으로 국내 유수의 수탁검사기관과 협업하여 개발하였습니다. 총 17개 유전 질환에 대한 연관 유전자들을 검사하기 위한 패널로 내부 테스트에서 95% 이상의 민감도와 99.5% 이상의 특이도를 보인 우수한 패널을 공급합니다. 

Disease Specific

Specification

*Gene Add-On Service: Genes can be added by customer’s request.
Gene count*14 - 293 genes
Covered regionWhole CDS, hotspots
Target size37.5 - 1,160 kb
Mutation typeSNV, Indel, CNV
Sample typeDiffers by somatic or germline panel
PlatformAll sequencers from Illumina, Thermo Fisher, MGI, PacBio, and Oxford Nanopore
Bioinformatics Support① Primary Analysis: FASTQ to annotated VCF
② Secondary Analysis: CNV, Large InDel
③ Tertiary Analysis: Clinical interpretation

List of Panels for various diseases

The contained genes of each specific disease panel are shown in the table below. If the panel does not contains genes of interest, customers can add those genes through our additional service. Please contact us for more information.

Panel NameRelated DiseasesGene List

Alzheimer-Parkinson-
Dementia Panel

(77 genes, 244.8 kb)

Alzheimer’s disease,
Parkinson’s disease,
Dementia, Dystonia		ABCA7ADCY5ALS2ANGANO3APPATP13A2ATP1A3ATP7B
C19orf12CACNA1BCHCHD10CHMP2BCHRNA4CIZ1COL6A3DAODCTN1
FIG4FUSGBAGCH1GNALGNAO1GRNHNRNPA1HNRNPA2B1
HPCAKCTD17KMT2BLRRK2MAPTMATR3MECRNEK1OPTN
PANK2PARK7PINK1PLA2G6PNKDPRKNPRKRAPRNPPRRT2
PSEN1PSEN2RELNSETXSGCESIGMAR1SLC19A3SLC2A1SLC30A10
SLC6A3SNCASOD1SORL1SPG11SQSTM1SRYTAF1TAF15
TARDBPTBK1THTHAP1TIMM8ATOR1ATREM2TUBA4ATUBB4A
UBQLN2VAC14VAPBVCPVPS13A    
Panel NameRelated DiseasesGene List
Bleeding Disorder-
Coagulopathy Panel
(115 genes, 326.3 Kb)		Bleeding Disorder,
Coagulation		ABCA1ACTN1ANKRD26ANO6AP3B1BLOC1S3BLOC1S6BRCA1BRCA2
BRIP1CD36CDAN1CYCSDDX41DKC1DTNBP1ELANEERCC4
ETV6F10F11F13A1F13BF2F5F7F8
F9FANCAFANCBFANCCFANCD2FANCEFANCFFANCGFANCI
FANCLFANCMFERMT2FGAFGBFGGFLI1FYB1GATA1
GATA2GFI1GFI1BGP1BAGP1BBGP6GP9HAX1HOXA11
HPS1HPS3HPS4HPS5HPS6IFNGITGA2BITGB3LMAN1
LYSTMASTLMCFD2MLPHMPLMYH9MYO5ANBEAL2NBN
NHP2NOP10P2RY12PALB2PLA2G4APLAUPRF1PRKACGRAB27A
RAD51CRASGRP2RBM8ARPL11RPL35ARPL5RPS10RPS19RPS24
RPS26RPS7RUNX1SBDSSEC23BSERPINE1SERPINF2SLFN14SLX4
SRCSRP72SRYSTIM1TBXA2RTBXAS1TERCTERTTINF2
UBE2TVIPAS39VPS33BVWFWASWIPF1XRCC2  
Panel NameRelated DiseasesGene List
Cardiovascular Panel
(174 genes, 681.3 Kb)		Cardiac diseasesABCC9ABCG5ABCG8ACTA1ACTA2ACTC1ACTN2AKAP9ALMS1
ANK2ANKRD1APOA4APOA5APOBAPOC2APOEBAG3BRAF
CACNA1CCACNA2D1CACNB2CALM1CALR3CASQ2CAV3CBLCBS
CETPCOL3A1COL5A1COL5A2COX15CREB3L3CRELD1CRYABCSRP3
CTF1DESDMDDNAJC19DOLKDPP6DSC2DSG2DSP
DTNAEFEMP2ELNEMDEYA4FBN1FBN2FHL1FHL2
FKRPFKTNFXNGAAGATAD1GCKRGJA5GLAGPD1L
GPIHBP1HADHAHCN4HFEHRASHSPB8ILKJAG1JPH2
JUPKCNA5KCND3KCNE1KCNE2KCNE3KCNH2KCNJ2KCNJ5
KCNJ8KCNQ1KLF10KRASLAMA2LAMA4LAMP2LDB3LDLR
LDLRAP1LMF1LMNALPLLTBP2MAP2K1MAP2K2MIB1MURC
MYBPC3MYH11MYH6MYH7MYL2MYL3MYLKMYLK2MYO6
MYOZ2MYPNNEXNNKX2-5NODALNOTCH1NPPANRASPCSK9
PDLIM3PKP2PLNPRDM16PRKAG2PRKAR1APTPN11RAF1RANGRF
RBM20RYR1RYR2SALL4SCN1BSCN2BSCN3BSCN4BSCN5A
SCO2SDHASEPN1SGCBSGCDSGCGSHOC2SLC25A4SLC2A10
SMAD3SMAD4SNTA1SOS1SREBF2TAZTBX20TBX3TBX5
TCAPTGFB2TGFB3TGFBR1TGFBR2TMEM43TMPOTNNC1TNNI3
TNNT2TPM1TRDNTRIM63TRPM4TTNTTRTXNRD2VCL
ZBTB17ZHX3ZIC3      
Panel NameRelated DiseasesGene List
Common Hereditary
Cancer Panel
(61 genes, 218 Kb)		Medical checkupAPCATMATRXBARD1BMPR1ABRAFBRCA1BRCA2BRIP1
CDH1CDKN2ACHEK2EGLN1EGLN2EPAS1EPCAMFGFR1FH
H3F3AHRASIDH2KIF1BKMT2DMAXMDH2MEN1MERTK
METMLH1MRE11MSH2MSH6MUTYHNBNNF1NF2
PALB2PMS2POLD1POLEPRSS1PTENRAD50RAD51CRAD51D
RB1RETSDHASDHAF2SDHBSDHCSDHDSMAD4SPINK1
STK11TMEM127TP53TSC1TSC2VHLWT1  
Panel NameRelated DiseasesGene List
Epilepsy Panel
(119 genes, 401.6 Kb)		EpilepsyAARSADGRV1ADSLALDH7A1ALG13ARHGEF15ARHGEF9ARXASAH1
ATP1A2ATP6AP2CACNA1ACASKCDKL5CHD2CHRNA2CHRNA4CHRNA7
CHRNB2CLCN4CLN3CLN5CLN6CLN8CNTNAP2CSTBCTSD
DCXDEPDC5DLG3DNAJC5DNM1DOCK7DYRK1AEEF1A2EPM2A
FOLR1FOXG1GABRA1GABRA2GABRB3GABRG2GAMTGATMGNAO1
GOSR2GRIN1GRIN2AGRIN2BHCN1HDAC4HNRNPUIQSEC2KANSL1
KCNA2KCNB1KCNH5KCNJ10KCNMA1KCNQ2KCNQ3KCNT1KCTD7
LGI1MAGI2MBD5MECP2MEF2CMFSD8NECAP1NHLRC1NR2F1
NRXN1PCDH19PIGAPIGOPIGQPIGVPLCB1PNKPPNPO
POLGPPT1PRICKLE1PRICKLE2PRRT2QARSRELNSCARB2SCN1A
SCN1BSCN2ASCN8ASCN9ASLC13A5SLC25A22SLC2A1SLC35A2SLC6A8
SLC9A6SMSSPTAN1SRPX2SRYST3GAL3STXBP1SYN1SYNGAP1
SYNJ1SZT2TBC1D24TCF4TPP1TSC1TSC2UBE3AWDR45
WWOXZEB2       
Panel NameRelated DiseasesGene List
Hearing Loss-Deafness
Panel
(30 genes, 130.3 Kb)		Hearing loss,
Deafness		CDH23CLRN1COCHCOL11A1COL2A1DIAPH1EDNRBEYA1GJB2
GJB6KCNE1KCNQ1KCNQ4MITFMYO15AMYO7AOTOFPAX3
POU3F4SIX5SLC26A4SNAI2SOX10TECTATMC1TMIETMPRSS3
USH1CUSH2AWFS1      
Panel NameRelated DiseasesGene List
Lymphoid Leukemia
Panel
(62 genes, 139.9 Kb)		Acute lymphatic
leukemia		ABL1AMELXAMELYARHGAP35BRAFBTG1CDKN2ACOL4A4CPNE1
CREBBPCRLF2DNM2DNMT3AEP300ETV6EZH2FBXW7FLT3
GATA3IDH1IDH2IKZF1IL7RJAK1JAK2JAK3KDM6A
KIAA1244KMT2AKMT2DKRASLEF1LMO1MAPK1NF1NOTCH1
NRASNSD2NT5C2NUDT15PAX5PCNXL2PHF6PRUNE2PTEN
PTPN11RB1RIPK3RUNX1SETD2SH2B3SP4SRYSTAG2
STAT3STAT5BTBL1XR1TCF3TP53TPMTUSP6NLWT1
Panel NameRelated DiseasesGene List
Lymphoma Panel
(51 genes, 118.3 Kb)		LymphomaALKATMB2MBCL6BIRC3BRAFBTKCARD11CD79A
CD79BCREBBPCXCR4EGR2EP300EZH2FASFAT4FBXO11
ID3IDH2IKBKBIKZF1JAK3KLF2MYCMYD88NFKBIE
NOTCH1NOTCH2PLCG1PLCG2POT1PRDM1RHOARPS15RRAGC
SF3B1SOCS1SRYSTAT3STAT5BTBL1XR1TCF3TET2TNFAIP3
TNFRSF14TP53TP63TRAF3UBR5XPO1   
Panel NameRelated DiseasesGene List
Lysosomal Storage
Diseases Panel
(86 genes, 195.9 Kb)		Lysosomal storage
disease		ABCD1ACOX1AGAAGLALDOAALDOBARSAARSBATP13A2
ATP7AATP7BCLN3CLN5CLN6CLN8CTNSCTSACTSD
CTSFDNAJC5FUCA1G6PCGAAGALCGALEGALK1GALK2
GALNSGALTGBAGBE1GJB2GLAGLB1GNPTABGNPTG
GNSGRNGUSBGYS1GYS2HEXAHEXBHGSNATHPRT1
HYAL1IDSIDUAKCTD7LDHALIPAMAN2B1MANBAMCOLN1
MFSD8NAGANAGLUNEU1NPC1NPC2PEX1PEX10PEX12
PEX13PEX14PEX16PEX19PEX2PEX26PEX3PEX5PEX6
PFKMPHKA2PHKBPHKG2PPT1PYGLPYGMSGSHSLC17A5
SLC2A2SLC37A4SMPD1SUMF1TPP1    
Panel NameRelated DiseasesGene List
Metabolic Disorders
Panel
(71 genes, 138.3 Kb)		Inborn errors of matabolismABCD1ACAD8ACADMACADSACADSBACADVLACAT1AHCYARG1
ASLASS1AUHBCKDHABCKDHBBTDCBSCPS1CPT1A
CPT2DBTDECR1DHCR7DLDETFAETFBETFDHFAH
GALEGALK1GALTGAMTGATMGCDHGCH1GNMTHADH
HADHAHADHBHLCSHMGCLHPDHSD17B10IVDLMBRD1MAT1A
MCCC1MCCC2MLYCDMMAAMMABMMACHCMMADHCMMUTMTHFR
MTRMTRROPA3OTCPAHPCBD1PCCAPCCBPTS
QDPRSLC22A5SLC25A13SLC25A20SLC6A8TATTAZTCN2 
Panel NameRelated DiseasesGene List
Myeloid Leukemia
Panel
(49 genes, 94.8 Kb)		Acute myeloid
leukemia		ANKRD26ASXL1ATRXBCORBCORL1BRAFCALRCBLCBLB
CEBPACSF3RDDX41DNMT3AETV6EZH2FLT3GATA1GATA2
HRASIDH1IDH2JAK2JAK3KDM6AKITKRASMPL
NOTCH1NPM1NRASPDGFRAPHF6PPM1DPTPN11RAD21RUNX1
SETBP1SF3B1SMC1ASMC3SRSF2STAG1STAG2STAT3TET2
TP53U2AF1WT1ZRSR2     
Panel NameRelated DiseasesGene List
Neuromuscular Panel
(293 genes, 1,160 Kb)		Neuromuscular
disease		AARSABCB7ABCD1ABHD12ACAD9ACADLACADMACO2ACTA1
ADCK3AFG3L2AGLAIFM1ALDH3A2AMPD1ANO10ANO5AP4B1
AP4E1AP4M1AP4S1AP5Z1APTXARSAATCAYATL1ATM
ATP2A1ATP7AATP7BATP8A2BAG3BEAN1BIN1BSCL2C10orf2
C12orf65C19orf12CACNA1ACACNA1SCACNB4CAPN3CASKCAV3CCDC78
CCDC88CCFL2CHATCHRNA1CHRNB1CHRNDCHRNECHRNGCLCN1
CLCN2CLN5CNTN1COL6A1COL6A2COL6A3COLQCPT1BCPT2
CRYABCTDP1CWF19L1CYP27A1CYP2U1CYP7B1DAG1DCTN1DDHD1
DDHD2DESDMDDNAJB2DNAJB6DNM2DNMT1DOK7DYNC1H1
DYSFEEF2EGR2ELOVL4ELOVL5EMDERLIN2ETFAETFB
FA2HFAM134BFGD4FGF14FHL1FIG4FKRPFKTNFLNC
FLVCR1FRMD7FUSFXNGAAGAD1GALCGANGARS
GBA2GDAP1GJB1GJC2GLAGLE1GNB4GNEGOSR2
GPR143GRID2GRM1GYS1HADHAHADHBHINT1HOXD10HSPB1
HSPB8HSPD1HSPG2IGHMBP2IKBKAPISPDITGA7ITPR1JPH3
KBTBD13KCNA1KCNC3KCND3KCNE3KCNJ10KCNJ18KIAA0196KIF1A
KIF1BKIF1CKIF5AKLHL40KLHL41L1CAMLAMA1LAMA2LARGE
LDB3LITAFLMNALPIN1LRSAM1MARSMARS2MATR3MED25
MFN2MPZMRE11AMTM1MTMR14MTMR2MTPAPMTTPMUSK
MYF6MYOTNDRG1NEBNEFLNGFNIPA1NOP56NTRK1
OPA1OPA3OPHN1PABPN1PANK2PDK3PDYNPEX7PFKM
PGAM2PHKA1PHYHPLECPLEKHG5PLP1PMM2PMP22PNKP
PNPLA6POLGPOLG2POMGNT1POMT1POMT2PRKCGPRPS1PRX
PTF1APTRFPYGMRAB7ARAPSNREEP1RNF216RRM2BRTN2
RUBCNRYR1RYR2SACSSBF2SCN4ASCN9ASEPN1SETX
SGCASGCBSGCDSGCESGCGSH3TC2SIL1SLC12A6SLC16A2
SLC1A3SLC33A1SLC39A4SLC52A2SLC9A1SLC9A6SMN1SNX14SOD1
SPASTSPG11SPG20SPG21SPG7SPTBN2SPTLC1SPTLC2STAC3
STUB1SUCLA2SYNE1SYNE2SYT14TBPTCAPTDP1TECPR2
TGM6TK2TMEM240TNNI2TNNT1TPM2TPM3TPP1TRIM32
TRPV4TTBK2TTNTTPATTRTUBB4ATYMPVAMP1VCP
VLDLRVPS13AVPS37AVRK1WFS1WNK1WWOXXKYARS
ZFYVE26ZFYVE27ZNF592      
Panel NameRelated DiseasesGene List
RASopathy Panel
(14 genes, 37.5 Kb)		RASopathiesBRAFCBLHRASKRASMAP2K1MAP2K2NF1NRASPTPN11
RAF1RIT1SHOC2SOS1SPRED1    
Panel NameRelated DiseasesGene List
Retinitis Pigmentosa
Panel
(111 genes, 325.3 Kb)		Retinitis pigmentosaABCA4ABHD12ADAM9ADGRA3AGBL5AIPL1ARHGEF18ARL2BPARL3
ARL6BBS1BBS2BEST1C2orf71C8orf37CA4CABP4CACNA1F
CACNA2D4CDHR1CERKLCLRN1CNGA1CNGB1CNGB3CNNM4CRB1
CRXCWC27CYP4V2DHDDSDHX38ELOVL4EMC1EYSFAM161A
FLVCR1FSCN2GNAT2GUCA1AGUCA1BGUCY2DHGSNATHK1IDH3B
IFT140IFT172IMPDH1IMPG2KCNV2KIAA1549KIZKLHL7LRAT
MAKMERTKMVKNEK2NEUROD1NR2E3NRLOFD1PDE6A
PDE6BPDE6CPDE6GPDE6HPITPNM3POMGNT1PRCDPRKCGPROM1
PRPF3PRPF31PRPF4PRPF6PRPF8PRPH2RAB28RAX2RBP3
RDH12RDH5REEP6RGRRGS9RGS9BPRHORIMS1RLBP1
ROM1RP1RP2RP9RPE65RPGRRPGRIP1SAGSEMA4A
SLC7A14SNRNP200SPATA7SPP2TOPORSTRNT1TTC8TULP1UNC119
USH2AZNF408ZNF513      
Panel NameRelated DiseasesGene List
Short Stature Panel
(162 genes, 616.1 Kb)		Short statureACTA2ADAMTS10ADAMTS2ADAMTSL4AGPSALPLARSEATP6V0A2ATP7A
ATRXB3GALT6B4GALT7BGNBLMBRAFCBLCBSCDC6
CDT1CHST14COL10A1COL11A1COL1A1COL1A2COL2A1COL3A1COL5A1
COL5A2COL9A1COL9A2COL9A3COMPCREBBPCRTAPCTSKCUL7
DHCR7DLL3DYNC2H1DYRK1AEBPEFEMP2ELNEP300ERCC6
ERCC8EVCEVC2EXT1EXT2FBLN5FBN1FBN2FGD1
FGF23FGFR1FGFR2FGFR3FKBP10FLNAFLNBFOXE3GH1
GHRGHRHRGLI2GLI3GNASGNPATHESX1HRASHSPG2
IFITM5IFT80IGF1IGF1RINPPL1KCNJ2KCNJ8KDM6AKMT2D
KRASLBRLHX3LIFRLOXLTBP2LZTR1MAP2K1MAP2K2
MAT2AMATN3MED12MFAP5MYH11MYLKNBASNBNNEK1
NF1NIPBLNRASNSDHLOBSL1ORC1ORC4ORC6P3H1
PCNTPEX7PHEXPLOD1PORPOU1F1PPIBPPP1CBPRKG1
PROP1PTPN11PYCR1RAF1RIN2RIT1RMRPROR2RPS6KA3
RUNX2SBDSSERPINH1SHOC2SKISLC26A2SLC2A10SLC34A3SLC35D1
SLC39A13SMAD3SMARCAL1SMC1ASMC3SMSSOS1SOS2SOX3
SOX9SPRED1SRCAPSRYTGFB1TGFB2TGFB3TGFBR1TGFBR2
THRBTRIM37TRIP11TRPS1TRPV4TTC21BWDR19WDR35WRN
Panel NameRelated DiseasesGene List
Skin Disorder Panel
(152 genes, 545.7 Kb)		Skin diseasesABCA12ABCB6ABCC6ABHD5ADAMTS2ADARALADALAS2ALDH3A2
ALOX12BALOXE3AP1S1ATMATP2A2ATP2C1ATP6V0A2BLMCARD14
CDH3CDSNCLDN1COL17A1COL1A1COL1A2COL3A1COL5A1COL5A2
COL7A1CPOXCTC1CTSCCYP4F22DDB2DKC1DOCK8DSG1
DSG4DSPDSTEBPECM1EDAEDAREDARADDEFEMP2
ELNERCC2ERCC3ERCC4ERCC5EXPH5FANCAFANCCFANCG
FECHFERMT1FLCNFLGGJB2GJB3GJB4GJB6GNAS
GORABGPR143GSNGTF2H5HFEHMBSHRIL36RNITGA3
ITGA6ITGB4JUPKITKRT1KRT10KRT14KRT16KRT17
KRT2KRT5KRT6AKRT6BKRT6CKRT81KRT83KRT86KRT9
LAMA3LAMB3LAMC2LIPHLIPNLORLPAR6LYSTMBTPS2
NF1NF2NHP2NIPAL4NOP10NSDHLOCA2PKP1PLEC
PLOD1PNPLA1POFUT1POGLUT1POLHPOMPPPOXPRKAR1APTCH1
PTCH2PYCR1RECQL4RTEL1SLC27A4SLC39A4SLC45A2SLURP1SNAP29
SPINK5SPRED1ST14STAT3STSSUFUTERCTERTTGM1
TGM5TINF2TNXBTRPV3TSC1TSC2TTRTYK2TYR
TYRP1URODUROSWASWRAP53XPAXPCZMPSTE24 
Panel NameRelated DiseasesGene List
Solid Tumor Panel
(60 genes, 109.4 Kb)		Somatic cancer
ABL1AKT1ALKAPCATMBRAFBRCA1BRCA2CDH1
CDKN2ACSF1RCTNNB1DLC1EGFRERBB2ERBB4ESR1FBXW7
FGFR1FGFR2FGFR3FTSJ3GNA11GNAQGNASHNF1AHRAS
IDH1IDH2ITPRID2JAK2JAK3KCNB2KDRKITKRAS
METMLH1MYCMYCNNOTCH1NRASNRXN1PDGFRAPIK3CA
PTENPTPN11RB1RBAKRETROS1SMAD4SMARCB1SMO
SMURF1SRCSTK11TP53VHLZNF594   

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[Product Overview] G-Mendeliome Disease-specific Panels

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Safety Data Sheets

최신 MSDS 파일이 필요하시면 ‘Contact Us‘를 통해 문의 주시기 바랍니다.

MSDS_G-Mendeliome Disease-Specific Panels_Illumina

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References

Validation of a Custom 30-gene Probe-capture Targeted Sequencing Panel to Detect Variants in FEVR-Linked Genes and the RS1 gene.

ARVO Annual Meeting Abstract

Validation of a Custom 30-gene Probe-capture Targeted Sequencing Panel to Detect Variants in FEVR-Linked Genes and the RS1 gene. </h4 >

Krikor, S., Dailey, W. A., Pinnock, C., Jobczyk, V., Drenser, K. A., & Mitton, K. P. (2025). Validation of a Custom 30-gene Probe-capture Targeted Sequencing Panel to Detect Variants in FEVR-Linked Genes and the RS1 gene. Investigative Ophthalmology & Visual Science, 66(8), 1837-1837.

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Phenotypic variability in cases with CACNA1A mutation

European Journal of Pediatrics

Phenotypic variability in cases with CACNA1A mutation

Bozkaya-Yilmaz, S., Olgac-Dundar, N., Aliyeva, N., Ersen, A., Gencpinar, P., Gungor, M., … & Kara, B. (2025). Phenotypic variability in cases with CACNA1A mutation. European Journal of Pediatrics, 184(4), 261.

 

10.1007/s00431-025-06062-3


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Rare Homozygous Variants in INSR and NFXL1 Are Associated with Severe Treatment-Resistant Psychosis

Molecular Sciences

Rare Homozygous Variants in INSR and NFXL1 Are Associated with Severe Treatment-Resistant Psychosis

Kanwal, A., Zulfiqar, R., Cheema, H. A., Jabbar, N., Iftikhar, A., Butt, A. I., … & Naz, S. (2025). Rare Homozygous Variants in INSR and NFXL1 Are Associated with Severe Treatment-Resistant Psychosis. International Journal of Molecular Sciences, 26(10), 4925.

 

10.3390/ijms26104925


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Phenotypes and Genotypes of Children with Vitamin D-Dependent Rickets Type 1A: A Single Tertiary Pediatric Center in Vietnam

Diagnostics

Phenotypes and Genotypes of Children with Vitamin D-Dependent Rickets Type 1A: A Single Tertiary Pediatric Center in Vietnam </h4 >

Tran, T. A. T., Dien, T. M., Nguyen, N. L., Nguyen, K. N., Can, T. B. N., Thao, B. P., … & Vu, C. D. (2025). Phenotypes and Genotypes of Children with Vitamin D-Dependent Rickets Type 1A: A Single Tertiary Pediatric Center in Vietnam. Diagnostics, 15(7), 918.

 

10.3390/diagnostics15070918

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