Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.R1824Q
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PLEC

NM_201380.4:p.R1824Q

Associated Papers

Expanding the Clinical Phenotype of PLECTIN-Related Plectinopathies.

Torbati PN et al.

Iranian Journal of Public Health, 2024

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."