Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A1
Variant:p.A88T
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SLC12A1

NM_000338.3:p.A88T

Associated Papers

Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.

Sinha R et al.

Pediatric Nephrology (berlin, Germany), 2022

Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.

Lenherr-Taube N et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

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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."