Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.I904F
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SLC12A3

NM_000339.3:p.I904F

Associated Papers

Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Zacchia M et al.

Journal of Nephrology, 2021

A thiazide test for the diagnosis of renal tubular hypokalemic disorders.

Colussi G et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2007

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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."