Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.L13_P15del0
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ACE

NM_000789.4:p.L13_P15del0

Associated Papers

Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease.

Fila M et al.

Pediatric Nephrology (berlin, Germany), 2020

Renal tubular dysgenesis and microcolon, a novel association. Report of three cases.

Saskin A et al.

European Journal of Medical Genetics, 2019

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

Gribouval O et al.

Human Mutation, 2012

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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."