Varaico: Literature-Extracted Genetic Variants

Gene:TPM3
Variant:p.Q32*
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TPM3

NM_152263.4:p.Q32*

Associated Papers

Whole genome sequencing in high-grade cervical intraepithelial neoplasia patients from different ethnic groups in China.

Wang J et al.

Medicine, 2023

37960754 (PubMed )
Supplement: medi-102-e35953-s002.xlsx › Suppl_Table2

The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications.

Xu H et al.

Genes & Diseases, 2021

Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation.

Kiphuth IC et al.

Journal of Neurology, 2010

Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin.

Clarke NF

Advances in Experimental Medicine and Biology, 2008

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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."