Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V250A
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SLC26A4

NM_000441.2:p.V250A

Associated Papers

Comparison of clinical performance of MeltPro hearing loss assay and targeted next generation sequencing assay for genetic screening of hearing loss.

Wang X et al.

Scientific Reports, 2025

40595116 (PubMed )
Supplement: 41598_2025_6744_MOESM1_ESM.xls › Supplementary_Table_S1

Multicolor melting curve analysis discloses high carrier frequency of hearing loss-associated variants among neonates in Jiangsu province.

Liu Y et al.

Molecular Genetics & Genomic Medicine, 2024

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 › Sheet1

Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China.

Tang X et al.

Frontiers in Pediatrics, 2021

Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.

Rapp C et al.

Biochimica Et Biophysica Acta. Biomembranes, 2017

Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.

Bassot C et al.

Biochimie, 2017

Molecular and functional characterization of human pendrin and its allelic variants.

Dossena S et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2011

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.

Dai P et al.

Physiological Genomics, 2009

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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."