Varaico: Literature-Extracted Genetic Variants

Gene:MYH14
Variant:p.S7*
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MYH14

NM_001145809.2:p.S7*

Associated Papers

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.

Hiramatsu K et al.

Genes, 2021

A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.

Wang M et al.

Bmc Medical Genetics, 2020

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.

Iyadurai S et al.

Muscle & Nerve, 2017

Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss.

Kim BJ et al.

The Journal of Gene Medicine, 2017

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).

Donaudy F et al.

American Journal of Human Genetics, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."