Varaico: Literature-Extracted Genetic Variants

Gene:CEP55
Variant:p.I172insFs
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CEP55

NM_018131.5:p.I172insFs

Associated Papers

Biallelic missense CEP55 variants cause prenatal MARCH syndrome.

Fu L et al.

Journal of Human Genetics, 2025

CEP55-associated lethal fetal syndrome: a case report of a Chinese family.

Wang Y et al.

Frontiers in Genetics, 2023

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A

CEP55 promotes cilia disassembly through stabilizing Aurora A kinase.

Zhang YC et al.

The Journal of Cell Biology, 2021

Expanding the spectrum of CEP55-associated disease to viable phenotypes.

Barrie ES et al.

American Journal of Medical Genetics. Part A, 2020

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.

Rawlins LE et al.

European Journal of Human Genetics : Ejhg, 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."