Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.P2219fs
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NOTCH2

NM_024408.4:p.P2219fs

Associated Papers

A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome.

Gu JM et al.

Joint Bone Spine, 2013

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

Majewski J et al.

Human Mutation, 2011

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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."