Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.G55insFs
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TCAP

NM_003673.4:p.G55insFs

Associated Papers

Clinical and molecular characterization of limb-girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patients.

Gaviraghi T et al.

Clinical Genetics, 2024

The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7.

Lv X et al.

Human Molecular Genetics, 2023

Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center.

Huang K et al.

Neurogenetics, 2022

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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."