Varaico: Literature-Extracted Genetic Variants

Gene:POPDC1
Variant:p.R143*
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POPDC1

NM_001199563.2:p.R143*

Associated Papers

Progress on the study of Popeye domain-containing 3 (POPDC3) in malignancies and striated muscle function and homeostasis.

Sun CC et al.

Clinical Genetics, 2023

The Role of POPDC Proteins in Cardiac Pacemaking and Conduction.

Gruscheski L et al.

Journal of Cardiovascular Development and Disease, 2021

Severe adolescent-onset limb-girdle muscular dystrophy due to a novel homozygous nonsense BVES variant.

Beecher G et al.

Journal of the Neurological Sciences, 2021

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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."