Varaico: Literature-Extracted Genetic Variants

Gene:TRIM32
Variant:p.I590L
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TRIM32

NM_012210.4:p.I590L

Associated Papers

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

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

Cossée M et al.

Neuromuscular Disorders : Nmd, 2009

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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."