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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEC

Variant:p.D4054_P4055del2

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PLEC

NM_201384.3:p.D4054_P4055del2

hg38:chr8:143917653 CTCAGGG>C

Associated Papers

Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes.

Tella S et al.

Indian Journal of Dermatology, 0

35656234 (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."