Varaico: Literature-Extracted Genetic Variants

Gene:ALPK3
Variant:p.Q681_E682delins
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ALPK3

NM_020778.5:p.Q681_E682delins

Associated Papers

Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.

Josephs KS et al.

Genome Medicine, 2024

Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.

Lenarduzzi S et al.

Molecular Genetics & Genomic Medicine, 2023

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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."