Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S137L
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SLC26A4

NM_000441.2:p.S137L

Associated Papers

Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.

Ma P 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

Genetic Epidemiology of Hearing Loss in the 22 Arab Countries: A Systematic Review.

Sidenna M et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM7_ESM.xlsx › Supplementary_Data_4

Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province.

Talbi S et al.

International Journal of Pediatric Otorhinolaryngology, 2018

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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."