Varaico: Literature-Extracted Genetic Variants

Gene:POPDC1
Variant:p.R88*
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POPDC1

NM_001199563.2:p.R88*

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

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .

The Role of the Popeye Domain Containing Gene Family in Organ Homeostasis.

Amunjela JN et al.

Cells, 2019

POPDC proteins and cardiac function.

Brand T

Biochemical Society Transactions, 2019

The Popeye domain containing gene family encoding a family of cAMP-effector proteins with important functions in striated muscle and beyond.

Swan AH et al.

Journal of Muscle Research and Cell Motility, 2019

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES.

De Ridder W et al.

Neurology. Genetics, 2019

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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."