Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.N948T
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MYBPC3

NM_000256.3:p.N948T

Associated Papers

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM

Mixed Hypertrophic and Dilated Phenotype of Cardiomyopathy in a Patient With Homozygous In-Frame Deletion in the MyBPC3 Gene Treated as Myocarditis for a Long Time.

Blagova O et al.

Frontiers in Pharmacology, 2020

Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.

Nagueh SF et al.

Jacc. Cardiovascular Imaging, 2015

Myosin binding protein C: implications for signal-transduction.

Knöll R

Journal of Muscle Research and Cell Motility, 2012

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Sarcomeric protein mutations in dilated cardiomyopathy.

Chang AN et al.

Heart Failure Reviews, 2005

Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.

Daehmlow S et al.

Biochemical and Biophysical Research Communications, 2002

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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."