Varaico: Literature-Extracted Genetic Variants

Gene:APRT
Variant:p.A139V
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APRT

NM_000485.3:p.A139V

Associated Papers

Exome-First Strategy in Adult Patients With CKD: A Cohort Study.

Doreille A et al.

Kidney International Reports, 2023

36938085 (PubMed )
Supplement: mmc2.xlsx › Liste_VUS

Hereditary causes of kidney stones and chronic kidney disease.

Edvardsson VO et al.

Pediatric Nephrology (berlin, Germany), 2013

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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."