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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TTN

Variant:p.Q22450Splc

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TTN

NM_001267550.2:p.Q22450Splc

hg38:chr2:178579934 C>T

Associated Papers

Relevance of truncating titin mutations in dilated cardiomyopathy.

Akinrinade O et al.

Clinical Genetics, 2016

26777568 (PubMed )

Supplement: supplement_1.pdf

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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."