Varaico: Literature-Extracted Genetic Variants

Gene:TRIM32
Variant:p.D12fs
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TRIM32

NM_012210.4:p.D12fs

Associated Papers

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

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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."