Varaico: Literature-Extracted Genetic Variants

Gene:CASQ2
Variant:p.K40E
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CASQ2

NM_001232.4:p.K40E

Associated Papers

Novel Multiplexed Plasma Biomarker Panel Has Diagnostic and Prognostic Potential in Children With Hypertrophic Cardiomyopathy.

Captur G et al.

Circulation. Genomic and Precision Medicine, 2024

38847081 (PubMed )
Supplement: hcg-17-e004448-s001.pdf

A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.

Seaby EG et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Excluded

Age and Sex Differences in the Genetics of Cardiomyopathy.

Akinrinade O et al.

Journal of Cardiovascular Translational Research, 2023

37477868 (PubMed )
Supplement: 12265_2023_10411_MOESM1_ESM.xlsx › Table_S2_All_variants
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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."