Celemics, Inc.

Publications

Celemics’ Publications

A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability

Molecular Syndromology

A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability

Sönmez, B., Kocabey, M., Polat, A. İ., Gürsoy, S., Karaoğlu, P., Horvath, R., … & Giray Bozkaya, Ö. (2025). A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability. Molecular Syndromology, 16(1), 61-68.

 

10.1159/000540325