Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A6
Variant:p.R621G
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SLC26A6

NM_022911.3:p.R621G

Associated Papers

Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis.

Cornière N et al.

Journal of Medical Genetics, 2022

Novel Human Polymorphisms Define a Key Role for the SLC26A6-STAS Domain in Protection From Ca2+-Oxalate Lithogenesis.

Shimshilashvili L et al.

Frontiers in Pharmacology, 2020

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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."