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

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

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