Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.Q276K
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TTN

NM_001267550.2:p.Q276K

Associated Papers

Gene-based Therapies for Genetic Cardiomyopathies: Molecular Medicine for Heart Disease.

Sharma S et al.

The Canadian Journal of Cardiology, 2026

Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.

Özyilmaz B et al.

Annals of Human Genetics, 2019

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

Punetha J et al.

Journal of Neuromuscular Diseases, 2016

[Autosomal recessive limb-girdle muscular dystrophy].

Hernández-Caballero ME et al.

Revista De Neurologia, 2010

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.

de Paula F et al.

European Journal of Human Genetics : Ejhg, 2003

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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."