Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.T483I
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ACE

NM_000789.4:p.T483I

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

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

Serum progranulin levels in paediatric patients with Gaucher disease; relation to disease severity and liver stiffness by transient elastography.

Tantawy AA et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2020

Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.

Balwani M et al.

Journal of Inherited Metabolic Disease, 2011

Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.

Choy FY et al.

Blood Cells, Molecules & Diseases, 0

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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."