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Article

Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.

American journal of medical genetics. Part A - 1 Jun 2024

Duman Duygu, Ramzan Memoona, Subasioglu Asli, Mutlu Ahmet, Peart LéShon, Seyhan Serhat, Guo Shengru, Ila Kadri, Balta Burhan, Kalcioglu Mahmut Tayyar, Bademci Guney, Tekin Mustafa

Abstract excerpt

Autosomal dominant sensorineural hearing loss (ADSNHL) is a genetically heterogeneous disorder caused by pathogenic variants in various genes, including MYH14. However, the interpretation of pathogenicity for MYH14 variants remains a challenge due to incomplete penetrance and the lack of functional studies and large families. In this study, we performed exome sequencing in six unrelated families with ADSNHL and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38352997
DOI: 10.1002/ajmg.a.63563
PMCID: PMC11060900

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