Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Q235R
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SLC26A4

NM_000441.2:p.Q235R

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

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

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.

Wonkam A et al.

Communications Biology, 2022

Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.

Tesolin P et al.

Genes, 2021

Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene.

Hasnain MJU et al.

Plos One, 2020

Genetics of vestibular syndromes.

Roman-Naranjo P et al.

Current Opinion in Neurology, 2018

Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies.

Busi M et al.

Biomed Research International, 2015

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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."