Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.A2655D
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PLEC

NM_201384.3:p.A2655D

Associated Papers

Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.

Mahoney MG et al.

The Journal of Investigative Dermatology, 2010

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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."