Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

Mark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, Fiona Macdonald, Carol Hardy, Danai Bem, Sarah M Carpanini, Guntram Borck, Loreto Martorell, Claudia Izzi, Francesca Faravelli, Patrizia Accorsi, Lorenzo Pinelli, Lina Basel-Vanagaite, Gabriela Peretz, Ghada M H Abdel-Salam, Maha S Zaki, Anna Jansen, David Mowat, Ian GlassHelen Stewart, Grazia Mancini, Damien Lederer, Tony Roscioli, Fabienne Giuliano, Astrid S Plomp, Arndt Rolfs, John M Graham, Eva Seemanova, Pilar Poo, Angels García-Cazorla, Patrick Edery, Ian J Jackson, Eamonn R Maher, Irene A Aligianis

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Biochemistry, Genetics and Molecular Biology