Varaico: Literature-Extracted Genetic Variants

Gene:MCM4
Variant:p.P24Splc
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MCM4

NM_182746.3:p.P24Splc

Associated Papers

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.

Vetro A et al.

European Journal of Human Genetics : Ejhg, 2017

Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair.

Casey JP et al.

Journal of Medical Genetics, 2012

Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.

Gineau L et al.

The Journal of Clinical Investigation, 2012

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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."