Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.S118L
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MYH7

NM_000257.4:p.S118L

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

Late Gadolinium Enhancement for Prediction of Mutation-Positive Hypertrophic Cardiomyopathy on the Basis of Panel-Wide Sequencing.

Teramoto R et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2018

Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients.

Jaafar N et al.

Genetic Testing and Molecular Biomarkers, 2016

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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."