Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.H2205insFs
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NOTCH2

NM_024408.4:p.H2205insFs

Associated Papers

Hajdu-Cheney Syndrome, a Rare Cause of Acro-Osteolysis and Osteoporosis With Zoledronic Acid Experience.

Buyukyilmaz G et al.

American Journal of Medical Genetics. Part A, 2025

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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."