Varaico: Literature-Extracted Genetic Variants

Gene:CDC45
Variant:p.E155G
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CDC45

NM_003504.5:p.E155G

Associated Papers

A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.

Li Q et al.

Orphanet Journal of Rare Diseases, 2024

The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.

Nielsen-Dandoroff E et al.

European Journal of Human Genetics : Ejhg, 2023

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › NBL-S

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

Fenwick AL et al.

American Journal of Human Genetics, 2016

Whole-exome sequencing of Finnish hereditary breast cancer families.

Määttä K et al.

European Journal of Human Genetics : Ejhg, 2016

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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."