Varaico: Literature-Extracted Genetic Variants

Gene:MYO6
Variant:p.A185fs
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MYO6

NM_004999.4:p.A185fs

Associated Papers

Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.

Cheng J et al.

Annals of Human Genetics, 2014

A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation.

Volk AE et al.

Audiology & Neuro-otology, 2013

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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."