Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.L426del1
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PLEC

NM_201380.4:p.L426del1

Associated Papers

Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India.

Vishwanathan GB et al.

American Journal of Medical Genetics. Part A, 2022

Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa.

Fozia F et al.

Frontiers in Pediatrics, 2021

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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."