Varaico: Literature-Extracted Genetic Variants

Gene:POPDC3
Variant:p.R162Splc
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POPDC3

NM_022361.5:p.R162Splc

Associated Papers

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

Baskar D et al.

Journal of Neuromuscular Diseases, 2025

Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis.

Wang R et al.

Briefings in Bioinformatics, 2023

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

Zhang L et al.

Clinical Genetics, 2022

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