Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Q200_L201Splc
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SLC26A4

NM_000441.2:p.Q200_L201Splc

Associated Papers

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Usami SI et al.

Human Genetics, 2022

34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final

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

Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

Mori K et al.

Plos One, 2016

27627659 (PubMed )
Supplement: pone.0162230.s001.xlsx › table_S1

Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.

Lu YJ et al.

Medicine, 2015

26683941 (PubMed )
Supplement: medi-94-e2248-s002.xls › Sheet1

The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.

Yan D et al.

Genetic Testing and Molecular Biomarkers, 2015

Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.

Miyagawa M et al.

Journal of Human Genetics, 2014

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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."