Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.P70L
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SLC26A4

NM_000441.2:p.P70L

Associated Papers

The correlation between deafness progression and SLC26A4 mutations in enlarged vestibular aqueduct patients.

Yu K et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 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 › SLC26A4.gvtable.9

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

An C et al.

Bioscience Reports, 2022

Genetics of Thyroid Disorders.

Cortés JMR et al.

Folia Medica, 2019

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

Molecular and functional characterization of human pendrin and its allelic variants.

Dossena S et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2011

Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.

Dossena S et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2011

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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."