Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.R713*
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TTN

NM_001267550.2:p.R713*

Associated Papers

Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene.

Perna A et al.

Neuromuscular Disorders : Nmd, 2024

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies.

Ávila-Polo R et al.

Journal of Neuropathology and Experimental Neurology, 2018

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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."