Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.T177I
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MYH7

NM_000257.4:p.T177I

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.

Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.

Suzuki T et al.

Journal of the American Heart Association, 2025

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

Marston NA et al.

European Heart Journal, 2021

33769460 (PubMed )
Supplement: ehab148_supplementary_appendix.pdf

Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction: Insights From the SHaRe Registry.

Marstrand P et al.

Circulation, 2020

32228044 (PubMed )
Supplement: cir-141-1371-s001.pdf

Thick Filament Protein Network, Functions, and Disease Association.

Wang L et al.

Comprehensive Physiology, 2018

A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.

Teirlinck CH et al.

Bmc Medical Genetics, 2012

Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.

Millat G et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

Millat G et al.

European Journal of Medical Genetics, 0

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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."