Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.A461V
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SLC26A2

NM_000112.4:p.A461V

Associated Papers

Substrate binding plasticity revealed by Cryo-EM structures of SLC26A2.

Hu W et al.

Nature Communications, 2024

Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.

Biji IK et al.

European Journal of Medical Genetics, 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."