Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.A198fs
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SLC3A1

NM_000341.4:p.A198fs

Associated Papers

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.

Lemberg K et al.

Kidney International Reports, 2025

41141495 (PubMed )
Supplement: mmc1.pdf

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

Daga A et al.

Kidney International, 2018

The genetic diversity of cystinuria in a UK population of patients.

Wong KA et al.

Bju International, 2015

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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."