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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CEP55

Variant:p.R453H

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CEP55

NM_018131.5:p.R453H

hg38:chr10:93528116 G>A

Associated Papers

Biallelic missense CEP55 variants cause prenatal MARCH syndrome.

Fu L et al.

Journal of Human Genetics, 2025

39414989 (PubMed )

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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."