NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

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im November 2018 veröffentlichter wissenschaftlicher Artikel

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scientific article published on 01 November 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в листопаді 2018

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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

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Anouck Schneider

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Avni B Santani

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Brieana Fregeau

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Bronwyn Kerr

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Caitlin J Bridges

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Catherine Nowak

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Constance Smith-Hicks

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Daniela T Pilz

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Dawn L Earl

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Denny Schanze

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P2860

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects

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Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum

Analysis of protein-coding genetic variation in 60,706 humans

A method and server for predicting damaging missense mutations

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752-768

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scholarly article

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10.1016/J.AJHG.2018.10.006

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English

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103

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2018-11-01T00:00:00Z

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30388402

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positive regulation of transcription, DNA-templated

Nuclear factor I B

haploinsufficiency

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6218805

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