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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEC

Variant:p.R450R

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PLEC

NM_201384.3:p.R450R

hg38:chr8:143933265 C>T

Associated Papers

DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia.

Nakamura H et al.

International Journal of Dermatology, 2011

21413955 (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."