Varaico: Literature-Extracted Genetic Variants

Gene:CEP55
Variant:p.E24K
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CEP55

NM_018131.5:p.E24K

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

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

Barrie ES et al.

American Journal of Medical Genetics. Part A, 2020

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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."