Varaico: Literature-Extracted Genetic Variants

Gene:TRIM32
Variant:p.P619S
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TRIM32

NM_012210.4:p.P619S

Associated Papers

Demographic, clinical, and genetic characteristics of patients with Limb-Girdle Muscular Dystrophies (LGMD): A single tertiary-center experience.

Kale MY et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025

Correction: Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.

Liang X et al.

Acta Neuropathologica Communications, 2025

Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.

Liang X et al.

Acta Neuropathologica Communications, 2025

Tripartite Motif-Containing Protein 32 (TRIM32): What Does It Do for Skeletal Muscle?

Jeong SY et al.

Cells, 2023

Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.

Rimoldi M et al.

Frontiers in Neurology, 2023

Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis.

Marchuk M et al.

Brain Sciences, 2021

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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."