Varaico: Literature-Extracted Genetic Variants

Gene:TRIM32
Variant:p.R166Q
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TRIM32

NM_012210.4:p.R166Q

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

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.

Johnson K et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

29921608 (PubMed )
Supplement: jnnp-2018-318288supp001.pdf
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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."