Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V510D
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SLC26A4

NM_000441.2:p.V510D

Associated Papers

The molecular principles underlying diverse functions of the SLC26 family of proteins.

Takahashi S et al.

The Journal of Biological Chemistry, 2024

The molecular principles underlying diverse functions of the SLC26 family of proteins.

Takahashi S et al.

Biorxiv : the Preprint Server for Biology, 2023

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

Kidney ion handling genes and their interaction in blood pressure control.

An C et al.

Bioscience Reports, 2022

Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR.

Chang MY et al.

Scientific Reports, 2016

Audiologic presentation of enlargement of the vestibular aqueduct according to the SLC26A4 genotypes.

Rah YC et al.

The Laryngoscope, 2015

Identification of novel functional null allele of SLC26A4 associated with enlarged vestibular aqueduct and its possible implication.

Jang JH et al.

Audiology & Neuro-otology, 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."