Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.P2069fs
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NOTCH2

NM_024408.4:p.P2069fs

Associated Papers

Letter to the Editor concerning "Hajdu Cheney syndrome; report of a novel NOTCH2 mutation and treatment with denosumab" by G. Adami et al. Bone 2016;92:150-156.

Jerzakowski G et al.

Bone, 2017

NOTCH2 genetic mutation and acro-osteolysis-the Hajdu-Cheney syndrome.

Jerzakowski G et al.

Qjm : Monthly Journal of the Association of Physicians, 2017

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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."