Varaico: Literature-Extracted Genetic Variants

Gene:ALPK3
Variant:p.Q675fs
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ALPK3

NM_020778.5:p.Q675fs

Associated Papers

A novel compound heterozygous variant in ALPK3 induced hypertrophic cardiomyopathy: a case report.

Li T et al.

Frontiers in Cardiovascular Medicine, 2023

Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.

Walsh R et al.

Nature Reviews. Cardiology, 2022

A Pathogenic Variant in ALPK3 Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy.

Cheawsamoot C et al.

Circulation. Genomic and Precision Medicine, 2020

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.

Jaouadi H et al.

Journal of Human Genetics, 2018

ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

Çağlayan AO et al.

Cold Spring Harbor Molecular Case Studies, 2017

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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."