Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.Q82*
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TCAP

NM_003673.4:p.Q82*

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

TCAP gene is not a common cause of cardiomyopathy in Iranian patients.

Alaei Z et al.

European Journal of Medical Research, 2023

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

Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related.

Chen Z et al.

Journal of Neuromuscular Diseases, 2023

The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.

Wadmore K et al.

International Journal of Molecular Sciences, 2021

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.

Chakravorty S et al.

Frontiers in Neurology, 2020

Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions.

de Fuenmayor-Fernández de la Hoz CP et al.

Neuromuscular Disorders : Nmd, 2016

Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G.

Barresi R et al.

Neuromuscular Disorders : Nmd, 2015

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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."