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Structure of human Cdc45 and implications for CMG helicase function
Aline C. Simon et al.
NATURE COMMUNICATIONS (2016)
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NATURE REVIEWS MOLECULAR CELL BIOLOGY (2015)
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
Sonja A. de Munnik et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans
Claire R. Hughes et al.
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Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency
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Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair
Jillian P. Casey et al.
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Duane L. Guernsey et al.
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Louise S. Bicknell et al.
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Louise S. Bicknell et al.
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C Eidenschenk et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
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M Ueno et al.
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GINS, a novel multiprotein complex required for chromosomal DNA replication in budding yeast
Y Takayama et al.
GENES & DEVELOPMENT (2003)