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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NOTCH1

Variant:p.G578A

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NOTCH1

NM_017617.5:p.G578A

hg38:chr9:136515653 C>G

Associated Papers

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )

Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › clinvar_annotation

Human Genetics of Ventricular Septal Defect.

Perrot A et al.

Advances in Experimental Medicine and Biology, 2024

38884729 (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."