Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.D491fs
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ACE

NM_000789.4:p.D491fs

Associated Papers

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

Effect of ACE mutations on blood ACE phenotype parameters.

Kryukova OV et al.

Plos One, 2024

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

Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.

Loules G et al.

Journal of Clinical Medicine, 2020

33114181 (PubMed )
Supplement: jcm-09-03402-s001.zip › jcm-959403-supplementary.xlsx › Table_S2
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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."