Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.Q2207*
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PLEC

NM_000445.5:p.Q2207*

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

DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Jung H et al.

Nature Communications, 2019

31537801 (PubMed )
Supplement: 41467_2019_12159_MOESM8_ESM.xlsx › Sheet1
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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."