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NARA Subscribed1
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Springer Nature1
Journal
Human Genetics1
Publication Year
20231
Kerith-Rae Dias results 1 · Newest (Page 1/1, per page 25)
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De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residuesNARA Subscribed
Human Genetics · 2023 · Vol. 142 · Issue 7 · Springer
Daphne J. Smits; Rachel Schot; Cristiana A. Popescu; Kerith-Rae Dias; Lesley Ades; Lauren C. Briere; David A. Sweetser; Itaru Kushima; Branko Aleksic; Suliman Khan; Vasiliki Karageorgou; Natalia Ordonez; Frank J. G. T. Sleutels; Daniëlle C. M. van der Kaay; Christine Van Mol; Hilde Van Esch; Aida M. Bertoli-Avella; Tony Roscioli; Grazia M. S. Mancini
The minichromosome maintenance (MCM) complex acts as a DNA helicase during DNA replication, and thereby regulates cell cycle progression and proliferation. In addition, MCM-complex components localize to centrosomes and play an independent role in ciliogenesis. Pathogenic variants in genes coding for MCM components and other DNA replication factors have been linked to growth and developmental disorders as Meier–Gorlin syndrome...
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