Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.R268delFs
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CDKN1C

NM_001122630.2:p.R268delFs

Associated Papers

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene.

Jurkiewicz D et al.

Clinical Dysmorphology, 2020

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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."