Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.L440_D441delFs
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ACE

NM_000789.4:p.L440_D441delFs

Associated Papers

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

Gribouval O et al.

Human Mutation, 2012

Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system.

Lacoste M et al.

Journal of the American Society of Nephrology : Jasn, 2006

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.

Gribouval O et al.

Nature Genetics, 2005

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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."