Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.S11*
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TCAP

NM_003673.4:p.S11*

Associated Papers

Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients.

Lin F et al.

Orphanet Journal of Rare Diseases, 2023

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

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

Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.

Francis A et al.

Plos One, 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."