Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.A213fs
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CDKN1C

NM_001122630.2:p.A213fs

Associated Papers

Expanded phenotype and cancer risk in patients with Beckwith-Wiedemann spectrum caused by CDKN1C variants.

George AM et al.

American Journal of Medical Genetics. Part A, 2024

Structure-Function Analysis of p57KIP2 in the Human Pancreatic Beta Cell Reveals a Bipartite Nuclear Localization Signal.

Choleva L et al.

Endocrinology, 2023

[Genetic analysis of two couples with a history of multiple fetal malformations].

Tao D et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

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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."