Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.R719Q
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ACE

NM_000789.4:p.R719Q

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

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

Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation.

Wang J et al.

Scientific Reports, 2018

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

Sassi C et al.

Plos One, 2016

27249223 (PubMed )
Supplement: pone.0150079.s002.xlsx › Tabelle1

Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

García-Giustiniani D et al.

Heart (british Cardiac Society), 2015

25935763 (PubMed )
Supplement: heartjnl-2014-307205-s1.pdf

Multiple mutations in genetic cardiovascular disease: a marker of disease severity?

Kelly M et al.

Circulation. Cardiovascular Genetics, 2009

Sudden cardiac death in patients with hypertrophic cardiomyopathy: from bench to bedside with an emphasis on genetic markers.

Marian AJ

Clinical Cardiology, 1995

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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."