Varaico: Literature-Extracted Genetic Variants

Gene:MYH14
Variant:p.S120L
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MYH14

NM_001145809.2:p.S120L

Associated Papers

Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility.

Zhang X et al.

Pediatric Rheumatology Online Journal, 2023

Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.

Vallian Broojeni J et al.

Plos One, 2023

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

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

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Sloan-Heggen CM et al.

Human Genetics, 2016

26969326 (PubMed )
Supplement: 439_2016_1648_MOESM1_ESM.pdf

Myosin light-chain kinase is necessary for membrane homeostasis in cochlear inner hair cells.

Zhu GJ et al.

Plos One, 2012

[c.359T>C mutation of the MYH14 gene in two autosomal dominant non-syndromic hearing impairment families with common ancestor].

Yang R et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2010

Genetic heterogeneity of deafness phenotypes linked to DFNA4.

Yang T et al.

American Journal of Medical Genetics. Part A, 2005

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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."