Varaico: Literature-Extracted Genetic Variants

Gene:ORC1
Variant:p.F89Y
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ORC1

NM_004153.4:p.F89Y

Associated Papers

Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

Schmit M et al.

International Journal of Molecular Sciences, 2021

Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.

de Munnik SA et al.

American Journal of Medical Genetics. Part A, 2012

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.

de Munnik SA et al.

European Journal of Human Genetics : Ejhg, 2012

Meier-Gorlin syndrome caused by ORC1 mutation associated with chromosomal breakage - coincidental finding or new feature of known syndrome?

Vojtková J et al.

Endokrynologia Polska, 0

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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."