Varaico: Literature-Extracted Genetic Variants

Gene:MYH6
Variant:p.R204H
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MYH6

NM_002471.4:p.R204H

Associated Papers

Generation of a human induced pluripotent stem cell line from a hypertrophic cardiomyopathy patient carrying MYH6/c.611G>A mutation.

Yang Z et al.

Stem Cell Research, 2024

Significance of α-Myosin Heavy Chain (MYH6) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular Diseases.

Anfinson M et al.

Journal of Cardiovascular Development and Disease, 2022

Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis.

Campuzano O et al.

Sports Medicine (auckland, N.z.), 2017

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

Rubattu S et al.

International Journal of Molecular Sciences, 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."