Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.L13_P17del0
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ACE

NM_000789.4:p.L13_P17del0

Associated Papers

Long-term kidney function stabilization with fludrocortisone in autosomal recessive renal tubular dysgenesis: a case report.

Sugita R et al.

Pediatric Nephrology (berlin, Germany), 2026

41212229 (PubMed )
Supplement: 467_2025_7051_MOESM2_ESM.xlsx › Sheet1

[RENAL TUBULAR DYSGENESIS SECONDARY TO MUTATIONS IN GENES ENCODING THE RENIN-ANGIOTENSIN SYSTEM].

Schreiber R et al.

Harefuah, 2021

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

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

Gribouval O et al.

Human Mutation, 2012

Inherited renal tubular dysgenesis may not be universally fatal.

Schreiber R et al.

Pediatric Nephrology (berlin, Germany), 2010

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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."