Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.S211G
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MYO7A

NM_000260.4:p.S211G

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A-Associated Usher Syndrome.

Romo-Aguas JC et al.

Investigative Ophthalmology & Visual Science, 2025

40257781 (PubMed )
Supplement: iovs-66-4-60_s002.xlsx › Genetic_results

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.

Stephenson KAJ et al.

Investigative Ophthalmology & Visual Science, 2023

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Patel MJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34230634 (PubMed )
Supplement: NIHMS1734674-supplement-Supplementary_Table_1.xlsx › _Suppl_Table_1

Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.

Yohe S et al.

Molecular Genetics & Genomic Medicine, 2020

31816670 (PubMed )
Supplement: MGG3-8-e1081-s001.xlsx › RD_Panel

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

Zhao L et al.

Human Genetics, 2015

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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."