Varaico: Literature-Extracted Genetic Variants

Gene:TRIM32
Variant:p.E489K
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TRIM32

NM_012210.4:p.E489K

Associated Papers

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

Jeong SY et al.

Cells, 2023

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.

Servián-Morilla E et al.

Acta Neuropathologica Communications, 2019

The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype.

Kudryashova E et al.

Human Molecular Genetics, 2011

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