Varaico: Literature-Extracted Genetic Variants

Gene:TRIM32
Variant:p.L535delFs
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TRIM32

NM_012210.4:p.L535delFs

Associated Papers

Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.

Rimoldi M et al.

Frontiers in Neurology, 2023

A novel homozygous exon2 deletion of TRIM32 gene in a Chinese patient with sarcotubular myopathy: A case report and literature review.

Wei XJ et al.

Bosnian Journal of Basic Medical Sciences, 2021

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.

Nectoux J et al.

European Journal of Human Genetics : Ejhg, 2015

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