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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDKN1C

Variant:p.F276delFs

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CDKN1C

NM_000076.2:p.F276delFs

hg38:chr11:2884127 GA>G

Associated Papers

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.

Arboleda VA et al.

Nature Genetics, 2012

22634751 (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."