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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NOTCH2

Variant:p.L2135insFs

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NOTCH2

NM_024408.4:p.L2135insFs

hg38:chr1:119916317 C>CAA

Associated Papers

A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome.

Gong RL et al.

Chinese Medical Journal, 2017

29176149 (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."