Varaico: Literature-Extracted Genetic Variants

Gene:TPM3
Variant:p.L149I
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TPM3

NM_152263.4:p.L149I

Associated Papers

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

Novel TPM3 mutation in a family with cap myopathy and review of the literature.

Schreckenbach T et al.

Neuromuscular Disorders : Nmd, 2014

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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."