Varaico: Literature-Extracted Genetic Variants

Gene:TRIM32
Variant:p.S594N
Back to variants list

TRIM32

NM_012210.4:p.S594N

Associated Papers

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

Jeong SY et al.

Cells, 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

Novel TRIM32 mutation in sarcotubular myopathy.

Panicucci C et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."