Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.P485insFs
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ACE

NM_000789.4:p.P485insFs

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

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2

Pan-Cancer Analysis of Genomic and Prognostic Characteristics Associated With Coronavirus Disease 2019 Regulators.

Zhang J et al.

Frontiers in Medicine, 2021

34458283 (PubMed )
Supplement: Table_1.XLS › ACE1

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."