Varaico: Literature-Extracted Genetic Variants

Gene:POPDC2
Variant:p.R98C
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POPDC2

NM_001369919.2:p.R98C

Associated Papers

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.

Nicastro M et al.

American Journal of Human Genetics, 2025

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy.

Nicastro M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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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."