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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NOTCH2

Variant:p.V2221fs

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NOTCH2

NM_024408.4:p.V2221fs

hg38:chr1:119916061 CAC>N

Associated Papers

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.

Pittaway JFH et al.

Orphanet Journal of Rare Diseases, 2018

29618366 (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."