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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL1A1

Variant:p.G818delFs

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COL1A1

NM_000088.4:p.G818delFs

hg38:chr17:50190106 AC>A

Associated Papers

Hidden familial cardiomyopathies in children: Role of genetic testing.

Girolami F et al.

International Journal of Cardiology, 2021

34384838 (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."