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Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1
Duerinckx, Sarah, Meuwissen, Marije, Perazzolo, Camille, Desmyter, Laurence, Pirson, Isabelle, Abramowicz, MarcLanguage:
english
Journal:
Molecular Genetics & Genomic Medicine
DOI:
10.1002/mgg3.400
Date:
April, 2018
File:
PDF, 674 KB
english, 2018