Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.D274A
Back to variants list

CDKN1C

NM_000076.2:p.D274A

Associated Papers

Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay.

Berland S et al.

Journal of Medical Genetics, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."