Varaico: Literature-Extracted Genetic Variants

Gene:CEP55
Variant:p.S425*
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CEP55

NM_018131.5:p.S425*

Associated Papers

Biallelic missense CEP55 variants cause prenatal MARCH syndrome.

Fu L et al.

Journal of Human Genetics, 2025

Generation of IPi002-A/B/C human induced pluripotent stem cell lines from MARCH amniotic fluid cells.

Boullé M et al.

Stem Cell Research, 2024

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

Wang Y et al.

Frontiers in Genetics, 2023

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

Barrie ES et al.

American Journal of Medical Genetics. Part A, 2020

Two NEMO-like Ubiquitin-Binding Domains in CEP55 Differently Regulate Cytokinesis.

Said Halidi KN et al.

Iscience, 2019

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

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.

Frosk P et al.

Journal of Medical Genetics, 2017

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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."