Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G334E
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SLC26A4

NM_000441.2:p.G334E

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS04_het

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

Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.

Wu CC et al.

Genes, 2019

Unique spectra of deafness-associated mutations in Mongolians provide insights into the genetic relationships among Eurasian populations.

Erdenechuluun J et al.

Plos One, 2018

Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister.

Borck G et al.

The Journal of Clinical Endocrinology and Metabolism, 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."