Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.Q2538*
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PLEC

NM_000445.5:p.Q2538*

Associated Papers

Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.

Mariath LM et al.

Clinical Genetics, 2021

Plectin-related skin diseases.

Natsuga K

Journal of Dermatological Science, 2015

The many faces of plectin and plectinopathies: pathology and mechanisms.

Winter L et al.

Acta Neuropathologica, 2013

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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."