Varaico: Literature-Extracted Genetic Variants

Gene:POPDC3
Variant:p.K154E
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POPDC3

NM_022361.5:p.K154E

Associated Papers

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

Baskar D et al.

Journal of Neuromuscular Diseases, 2025

A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.

Ahmad R et al.

Neurogenetics, 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

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

Ullah A et al.

The Journal of Gene Medicine, 2022

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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."