Varaico: Literature-Extracted Genetic Variants

Gene:CEP55
Variant:p.H458R
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CEP55

NM_018131.5:p.H458R

Associated Papers

Biallelic missense CEP55 variants cause prenatal MARCH syndrome.

Fu L et al.

Journal of Human Genetics, 2025

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf

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

Wang Y et al.

Frontiers in Genetics, 2023

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.

Sparks TN et al.

The New England Journal of Medicine, 2020

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