Varaico: Literature-Extracted Genetic Variants

Gene:CEP152
Variant:p.L512*
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CEP152

NM_001194998.2:p.L512*

Associated Papers

Case Report: Compound heterozygous CEP152 c.3346-5T>C variant and chr15 deletion causing recurrent MCPH-SCKS in a Chinese pregnant woman across two consecutive pregnancies.

Zhang T et al.

Frontiers in Genetics, 2025

Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family.

Zhang L et al.

Frontiers in Genetics, 2022

[Analysis of clinical feature and genetic mutation in a Chinese family affected with Seckel syndrome].

Hong L et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

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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."