Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.E2058*
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PLEC

NM_000445.5:p.E2058*

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

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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."