Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.R668C
Back to variants list

MYBPC3

NM_000256.3:p.R668C

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

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

29875424 (PubMed )
Supplement: 41436_2018_46_MOESM1_ESM.xlsx › Table_S3

Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.

Roncarati R et al.

Journal of Cellular Physiology, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."