Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Y728H
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SLC26A4

NM_000441.2:p.Y728H

Associated Papers

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

A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family.

Wu T et al.

Bmc Medical Genomics, 2022

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

[An investigation of SLC26A4 gene mutation in nonsydromic hearing impairment in Hunan province of China].

Jiang L et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2010

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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."