Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1
Author:
Affiliation:
1. Department of Medical Genetics; Hôpital Erasme and IRIBHM; Université Libre de Bruxelles; Brussels Belgium
2. Department of Medical Genetics; Antwerp University Hospital; Antwerp Belgium
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.400/fullpdf
Reference20 articles.
1. XRCC4 controls nuclear import and distribution of Ligase IV and exchanges faster at damaged DNA in complex with Ligase IV;Berg;DNA Repair,2011
2. A framework for variation discovery and genotyping using next-generation DNA sequencing data;DePristo;Nature Genetics,2011
3. ELM 2016 - Data update and new functionality of the eukaryotic linear motif resource;Dinkel;Nucleic Acids Research,2016
4. A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells;Gavvovidis;PLoS ONE,2012
5. The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes;Gussow;Genome Biology,2016
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