Varaico: Literature-Extracted Genetic Variants

Gene:ALPK3
Variant:p.E301delFs
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ALPK3

NM_020778.5:p.E301delFs

Associated Papers

ALPK3 heterozygous truncating variants cause late-onset hypertrophic cardiomyopathy with frequent apical involvement and apical aneurysm.

Busse L et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Genetic Clues on Implantable Cardioverter-Defibrillator Placement in Young-Age Hypertrophic Cardiomyopathy: A Case Report of Novel MYH7 Mutation and Literature Review.

Li X et al.

Frontiers in Cardiovascular Medicine, 2021

Hereditary Hypertrophic Cardiomyopathy in Children and Young Adults-The Value of Reevaluating and Expanding Gene Panel Analyses.

Fernlund E et al.

Genes, 2020

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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."