Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.Q2285fs
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NOTCH2

NM_024408.4:p.Q2285fs

Associated Papers

Hajdu Cheney Syndrome due to NOTCH2 defect - First case report from Pakistan and review of literature.

Ahmed S et al.

Annals of Medicine and Surgery (2012), 2021

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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."