Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.Q56insFs
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TCAP

NM_003673.4:p.Q56insFs

Associated Papers

Two distinct phenotypes and a novel mutation in limb-girdle muscular dystrophy R7 telethonin-related patients from Thai neuromuscular center.

Paprad T et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

AAV-based TCAP delivery rescues mitochondria dislocation in limb-girdle muscular dystrophy R7.

Lv X et al.

Brain : a Journal of Neurology, 2025

39468783 (PubMed )
Supplement: awae351_supplementary_data.zip › brain-2023-01962-File011.pdf

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

Alaei Z et al.

European Journal of Medical Research, 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

Distal myopathy due to TCAP variants in four unrelated Chinese patients.

Lv X et al.

Neurogenetics, 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

[Limb-girdle muscular dystrophy type 2G: clinical, pathological and genetic analysis of a case].

Wang W et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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."