Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.H133N
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MYO7A

NM_000260.4:p.H133N

Associated Papers

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

37466950 (PubMed )
Supplement: iovs-64-10-23_s002.xlsx › Sheet1

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.

Feenstra HM et al.

Genes, 2022

36011334 (PubMed )
Supplement: genes-13-01423-s001.zip › genes-1827009-supplementary.pdf

Panel-based genetic testing for inherited retinal disease screening 176 genes.

Sheck LHN et al.

Molecular Genetics & Genomic Medicine, 2021

33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new

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
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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."