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Fig. 3 | Skeletal Muscle

Fig. 3

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

Fig. 3

Literature review of TRIM32 mutations and phenotypes. A Schematic diagram of TRIM32 gene deletions (length and location). B Schematic diagram of the variants in the TRIM32 gene and the protein structure. TRIM32 is located on chromosome 9(q33.1), inlaid in the ASTN2 gene. All variants are arranged horizontally in five regions by location and vertically in 3 categories by disease. The mutation and deletion described in this article are marked in red

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