Varaico: Literature-Extracted Genetic Variants

Gene:CMYA5
Variant:p.G82E
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CMYA5

NM_153610.5:p.G82E

Associated Papers

Systematic phenotype and genotype characterization of Moebius syndrome.

Webb BD et al.

Genetics in Medicine Open, 2025

40662098 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_8

Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy.

Bainbridge MN et al.

Bmc Medical Genetics, 2017

28253841 (PubMed )
Supplement: 12881_2017_385_MOESM1_ESM.pdf

Heritability and genetic association analysis of cognition in the Diabetes Heart Study.

Cox AJ et al.

Neurobiology of Aging, 2014

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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."