Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R1475C
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MYH7

NM_000257.4:p.R1475C

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.

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

Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy.

Hagen CM et al.

Plos One, 2015

Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families.

Miller EM et al.

Journal of Genetic Counseling, 2013

Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.

Kindel SJ et al.

Journal of Cardiac Failure, 2012

One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region.

Hougs L et al.

European Journal of Human Genetics : Ejhg, 2005

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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."