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Paper Title
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
PubMed
Paper Journal Title
Neuron
Paper Citation Count
29
Paper Publication Year
2018
Bio Mention
AKT3, CH-CM, Cerebellar Hypoplasia, Corpus callosum malformations, Cortical Malformations, MAST1, MCC, Mast1, Mast1 microdeletions, Mast2, Mast3, Mega-Corpus-Callosum Syndrome, PI3K, amino acid, autism, cerebellar hypoplasia, cortical malformations, mTOR, mega-corpus-callosum syndrome, megalencephaly, microcephaly, neurodevelopmental diseases, patients, post, post-mitotic neurons
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Author Name
Affiliation
Alistair T Pagnamenta
NIHR Oxford Biomedical Research Centre, University of Oxford
Jenny C Taylor
NIHR Oxford Biomedical Research Centre, University of Oxford
Alexandre Reymond
Center for Integrative Genomics, University of Lausanne
Jonathan A Bernstein
Stanford School of Medicine
Linlea Armstrong
University of British Columbia
Susan M Hiatt
HudsonAlpha Institute for Biotechnology
Gregory M Cooper
HudsonAlpha Institute for Biotechnology
Gregory M Cooper
HudsonAlpha Institute for Biotechnology
William B Dobyns
Seattle Children's Research Institute, Center for Integrative Brain Research
Ghayda M Mirzaa
Seattle Children's Research Institute, Center for Integrative Brain Research
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