Varaico: Literature-Extracted Genetic Variants

Gene:MYO6
Variant:p.R1272W
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MYO6

NM_004999.4:p.R1272W

Associated Papers

Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss.

Raghuvanshi R et al.

Genetic Testing and Molecular Biomarkers, 2024

High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss.

Frohne A et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2021

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information

Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.

Sampaio-Silva J et al.

Annals of Human Genetics, 2018

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

Miyagawa M et al.

Plos One, 2013

23967202 (PubMed )
Supplement: pone.0071381.s004.pdf
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