Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.D2836N
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PLEC

NM_201384.3:p.D2836N

Associated Papers

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.

Hoorntje ET et al.

Plos One, 2018

30161220 (PubMed )
Supplement: pone.0203078.s002.xlsx › S2_Table

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 884.336
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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."