Varaico: Literature-Extracted Genetic Variants

Gene:ALPK3
Variant:p.E241insFs
Back to variants list

ALPK3

NM_020778.5:p.E241insFs

Associated Papers

Whole-exome sequencing identifies novel truncating ALPK3 variants in a compound heterozygous state associated with pediatric hypertrophic cardiomyopathy and phenotypic heterogeneity.

Wang Y et al.

Gene, 2025

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

Li T et al.

Frontiers in Cardiovascular Medicine, 2023

[ALPK3 gene-related pediatric cardiomyopathy with craniofacial-skeletal features: a report and literature review].

Ding WW et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."