Varaico: Literature-Extracted Genetic Variants

Gene:ORC1
Variant:p.T574M
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ORC1

NM_004153.4:p.T574M

Associated Papers

Molecular impacts of Meier-Gorlin syndrome mutations on human origin licensing.

Yang R et al.

The Journal of Biological Chemistry, 2025

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

Homologous recombination deficiency derived from whole-genome sequencing predicts platinum response in triple-negative breast cancers.

Ter Brugge P et al.

Nature Communications, 2023

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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."