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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTB

Variant:p.Q121_I122Splc

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ACTB

NM_001101.5:p.Q121_I122Splc

hg38:chr7:5528722 G>C

Associated Papers

A validated heart-specific model for splice-disrupting variants in childhood heart disease.

Lesurf R et al.

Genome Medicine, 2024

39402625 (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."