Varaico: Literature-Extracted Genetic Variants

Gene:TRIM32
Variant:p.L163P
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TRIM32

NM_012210.4:p.L163P

Associated Papers

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.

Molaei N et al.

Scientific Reports, 2025

41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1

Coiled-coil-domain-mediated TRIM E3 protein condensation modulates enzymatic activity and functional specificity.

Chen Q et al.

Cell Reports, 2025

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2

The spectrum of hereditary neuromuscular disorders in the Pakistani population.

Akbar F et al.

American Journal of Medical Genetics. Part A, 2023

TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype-phenotype correlation.

Guan Y et al.

Skeletal Muscle, 2023

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

Rimoldi M et al.

Frontiers in Neurology, 2023

TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.

Kumarasinghe L et al.

Cells, 2021

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.

Johnson K et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

29921608 (PubMed )
Supplement: jnnp-2018-318288supp003.pdf
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