Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.V2111V
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PLEC

NM_201384.3:p.V2111V

Associated Papers

Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.

Okashah S et al.

Genes, 2022

36011280 (PubMed )
Supplement: genes-13-01369-s001.zip › supplementary_tables › Suplemntary_Tables_compressed.zip › Suplemntary_Tables_compressed › Table_S1_2_4.xlsx › Table_S4

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
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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."