Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.S486fs
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ACE

NM_000789.4:p.S486fs

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

Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.

Huang CY et al.

Bmc Cancer, 2025

41068688 (PubMed )
Supplement: 12885_2025_15053_MOESM2_ESM.xlsx › Table.S4

ACE-Dependent Alzheimer's Disease: Circulating ACE Phenotypes in Heterozygous Carriers of Rare ACE Variants.

Mironenko IV et al.

International Journal of Molecular Sciences, 2025

41009662 (PubMed )
Supplement: ijms-26-09099-s001.zip › ijms-3824164-supplementary.pdf

Effects of Angiotensin-I-Converting Enzyme (ACE) Mutations Associated with Alzheimer's Disease on Blood ACE Phenotype.

Kryukova OV et al.

Biomedicines, 2024

39457722 (PubMed )
Supplement: biomedicines-12-02410-s001.zip › biomedicines-3224268-supplementary.pdf

Carriers of Heterozygous Loss-of-Function ACE Mutations Are at Risk for Alzheimer's Disease.

Danilov SM et al.

Biomedicines, 2024

38255267 (PubMed )
Supplement: biomedicines-12-00162-s001.zip › biomedicines-2780808-Supplementary.pdf

Effect of ACE mutations on blood ACE phenotype parameters.

Kryukova OV et al.

Plos One, 2024

39378208 (PubMed )
Supplement: pone.0308289.s001.pdf

A Premature Baby with Severe Oligohydramnios and Hypotension: a Case Report of Renal Tubular Dysgenesis.

Min J et al.

Journal of Korean Medical Science, 2020

Two novel deleterious variants of Angiotensin-I-converting Enzyme gene identified in a family with recurrent anhydramnios.

Wang J et al.

Molecular Genetics & Genomic Medicine, 2020

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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."