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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEC

Variant:p.E2401_A2403del0

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PLEC

NM_201384.3:p.E2401_A2403del0

hg38:chr8:143922721 GCGTCCT>G

Associated Papers

Management of Refractory Infections in a Neonate With Severe Generalized Epidermolysis Bullosa Simplex: A Case Report.

Maekawa M et al.

Cureus, 2025

41625915 (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."