Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V285I
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SLC26A4

NM_000441.2:p.V285I

Associated Papers

SLC26A4 C.317C > A Variant: Functional Analysis and Patient-Derived Induced Pluripotent Stem Line Development.

Li Y et al.

Molecular Genetics & Genomic Medicine, 2025

Novel Missense Variants in PAX8 and NKX2-1 Cause Congenital Hypothyroidism.

Li M et al.

International Journal of Molecular Sciences, 2023

SLC26A4 Mutation Promotes Cell Apoptosis by Inducing Pendrin Transfer, Reducing Cl- Transport, and Inhibiting PI3K/Akt/mTOR Pathway.

Dai X et al.

Biomed Research International, 2022

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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."