Varaico: Literature-Extracted Genetic Variants

Gene:VANGL1
Variant:p.Y290H
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VANGL1

NM_138959.3:p.Y290H

Associated Papers

Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.

Qu HQ et al.

Journal of Molecular Medicine (berlin, Germany), 2025

39730912 (PubMed )
Supplement: 109_2024_2510_MOESM2_ESM.xlsx › Sheet1

Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.

Merello E et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2015

Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects.

Bartsch O et al.

Molecular Syndromology, 2012

Novel mutations in VANGL1 in neural tube defects.

Kibar Z et al.

Human Mutation, 2009

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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."