Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S8L
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SLC26A4

NM_000441.2:p.S8L

Associated Papers

Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.

Liu Q et al.

Nature Communications, 2023

37230976 (PubMed )
Supplement: 41467_2023_38303_MOESM3_ESM.xlsx › SLC26A4.gvtable.9

Genetic Susceptibility Study of Chinese Sudden Sensorineural Hearing Loss Patients with Vertigo.

Gao Y et al.

Current Medical Science, 2021

Genetic mutations in non-syndromic deafness patients in Hainan Province have a different mutational spectrum compared to patients from Mainland China.

Huang B et al.

International Journal of Pediatric Otorhinolaryngology, 2018

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

Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.

Zhang F et al.

Biomed Research International, 2016

27247933 (PubMed )
Supplement: 1302914.f1.pdf

Application of SNPscan in Genetic Screening for Common Hearing Loss Genes.

Gao Z et al.

Plos One, 2016

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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."