Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.S282fs
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CDKN1C

NM_000076.2:p.S282fs

Associated Papers

Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome.

Hamajima N et al.

Plos One, 2013

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

Arboleda VA et al.

Nature Genetics, 2012

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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."