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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDKN1C

Variant:p.A180insFs

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CDKN1C

NM_001122630.2:p.A180insFs

hg38:chr11:2884918 G>GCCGGAGCCGGA

Associated Papers

A Case of Familial CDKN1C-Related Beckwith-Wiedemann Syndrome.

Creswell L et al.

Prenatal Diagnosis, 2026

41577651 (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."