Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.S1176N
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MYO7A

NM_000260.4:p.S1176N

Associated Papers

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

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.

García-García G et al.

Genes, 2020

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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