Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.Q126*
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MYL2

NM_000432.4:p.Q126*

Associated Papers

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.

García Hernandez S et al.

Circulation, 2025

40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.

Verdonschot JAJ et al.

Circulation. Genomic and Precision Medicine, 2024

38516780 (PubMed )
Supplement: hcg-17-e004416-s001.pdf

Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.

Verhagen JMA et al.

European Journal of Human Genetics : Ejhg, 2018

Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.

Matsuo H et al.

Annals of the Rheumatic Diseases, 2016

25646370 (PubMed )
Supplement: annrheumdis-2014-206191-s1.pdf
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