Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.R834W
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MYBPC3

NM_000256.3:p.R834W

Associated Papers

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 › MYBPC3

Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death.

Neves R et al.

Circulation. Genomic and Precision Medicine, 2022

Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young.

Anderson JH et al.

Circulation. Cardiovascular Genetics, 2016

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.

Alders M et al.

European Heart Journal, 2003

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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."