Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R1820Q
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MYH7

NM_000257.4:p.R1820Q

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.

MYH7 in cardiomyopathy and skeletal muscle myopathy.

Gao Y et al.

Molecular and Cellular Biochemistry, 2024

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S8

Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum.

Chompoopong P et al.

Annals of Clinical and Translational Neurology, 2023

Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.

Kurzlechner LM et al.

Journal of Personalized Medicine, 2022

35629155 (PubMed )
Supplement: jpm-12-00733-s001.zip › HCM_ES_Variants_Manuscript__Supplemental_Table_S1.xlsx › MYH7

Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants.

Brand P et al.

Neuromuscular Disorders : Nmd, 2016

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