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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEC

Variant:p.L4119_P4120del2

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PLEC

NM_201384.3:p.L4119_P4120del2

hg38:chr8:143917460 GCGGCAA>G

Associated Papers

Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review.

Luo C et al.

Frontiers in Pediatrics, 2023

37033187 (PubMed )

Supplement: Datasheet1.pdf

Plectin-related skin diseases.

Natsuga K

Journal of Dermatological Science, 2015

25530118 (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."