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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYBPC3

Variant:p.Q969Splc

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MYBPC3

NM_000256.3:p.Q969Splc

hg38:chr11:47334022 G>A

Associated Papers

Benchmarking deep learning splice prediction tools using functional splice assays.

Riepe TV et al.

Human Mutation, 2021

33942434 (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."