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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEC

Variant:p.A1631S

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PLEC

NM_000445.5:p.A1631S

hg38:chr8:143925119 C>A

Associated Papers

PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.

Bolling MC et al.

The Journal of Investigative Dermatology, 2010

20016501 (PubMed )

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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."