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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NOTCH2

Variant:p.K2009_E2010Splc

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NOTCH2

NM_024408.4:p.K2009_E2010Splc

hg38:chr1:119916778 C>A

Associated Papers

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

McDaniell R et al.

American Journal of Human Genetics, 2006

16773578 (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."