Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.P70delFs
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SLC26A4

NM_000441.2:p.P70delFs

Associated Papers

Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.

Shatokhina O et al.

International Journal of Molecular Sciences, 2022

36555390 (PubMed )
Supplement: ijms-23-15748-s001.zip › ijms-2036179_suppl._tableS1.pdf

Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort.

Liao EN et al.

Jama Network Open, 2022

36166228 (PubMed )
Supplement: jamanetwopen-e2233441-s001.pdf

The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.

Nishio SY et al.

Human Mutation, 2017

28008688 (PubMed )
Supplement: HUMU-38-252-s001.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."