Varaico: Literature-Extracted Genetic Variants

Gene:POPDC3
Variant:p.R261Q
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POPDC3

NM_022361.5:p.R261Q

Associated Papers

An interesting report of POPDC3 limb girdle muscular dystrophy R26 from India.

Baskar D et al.

Journal of Neuromuscular Diseases, 2025

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

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

A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype.

De Ridder W et al.

Neuromuscular Disorders : Nmd, 2023

A novel splice site variant in the POPDC3 causes autosomal recessive limb-girdle muscular dystrophy type 26.

Zhang L et al.

Clinical Genetics, 2022

Homozygous missense variant in POPDC3 causes recessive limb-girdle muscular dystrophy type 26.

Ullah A et al.

The Journal of Gene Medicine, 2022

The Role of POPDC Proteins in Cardiac Pacemaking and Conduction.

Gruscheski L et al.

Journal of Cardiovascular Development and Disease, 2021

POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.

Vissing J et al.

Annals of Neurology, 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."