Varaico: Literature-Extracted Genetic Variants

Gene:TRIM32
Variant:p.L589insFs
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TRIM32

NM_012210.4:p.L589insFs

Associated Papers

The E3 ubiquitin ligase TRIM32 regulates myoblast proliferation by controlling turnover of NDRG2.

Mokhonova EI et al.

Human Molecular Genetics, 2015

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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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."