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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TTN

Variant:p.V31745G

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TTN

NM_001267550.2:p.V31745G

hg38:chr2:178546002 A>C

Associated Papers

Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease.

Gohlke J et al.

Human Molecular Genetics, 2024

39277846 (PubMed )

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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."