Varaico: Literature-Extracted Genetic Variants

Gene:MYO6
Variant:p.L926Q
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MYO6

NM_004999.4:p.L926Q

Associated Papers

In silico and in vivo analyses of a novel variant in MYO6 identified in a family with postlingual non-syndromic hearing loss from Argentina.

Buonfiglio PI et al.

Nar Genomics and Bioinformatics, 2024

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

Autoinhibition and activation of myosin VI revealed by its cryo-EM structure.

Niu F et al.

Nature Communications, 2024

How myosin VI traps its off-state, is activated and dimerizes.

Canon L et al.

Nature Communications, 2023

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

Myosin VI must dimerize and deploy its unusual lever arm in order to perform its cellular roles.

Mukherjea M et al.

Cell Reports, 2014

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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."