Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A6
Variant:p.R507W
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SLC26A6

NM_022911.3:p.R507W

Associated Papers

Navigating the Evolving Landscape of Primary Hyperoxaluria: Traditional Management Defied by the Rise of Novel Molecular Drugs.

Huang Y et al.

Biomolecules, 2024

The enigmatic SLC26A6 multifunctional anion transporter: recent advances in structure-function relationship, pathophysiological significance and novel pharmacological inhibitors.

Seidler UE

Frontiers in Pharmacology, 2024

Genetic assessment in primary hyperoxaluria: why it matters.

Mandrile G et al.

Pediatric Nephrology (berlin, Germany), 2023

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

Cornière N et al.

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."