Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.Y85*
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TCAP

NM_003673.4:p.Y85*

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

Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.

Barbosa-Gouveia S et al.

Journal of Clinical Medicine, 2022

35628876 (PubMed )
Supplement: jcm-11-02750-s001.zip › jcm-1640664-supplementary.pdf

Late onset distal myopathy: A new telethoninopathy.

Blanco-Palmero VA et al.

Neuromuscular Disorders : Nmd, 2019

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

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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."