A screen for deeply conserved non-coding GWAS SNPs uncovers a MIR-9-2 functional mutation associated to retinal vasculature defects in human.

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Title: A screen for deeply conserved non-coding GWAS SNPs uncovers a MIR-9-2 functional mutation associated to retinal vasculature defects in human.
Authors: Madelaine R; Department of Psychiatry and Behavioral Sciences, Stanford Center for Sleep Sciences and Medicine, Stanford, CA 94305, USA., Notwell JH; Department of Computer Science, Stanford, CA 94305, USA., Skariah G; Department of Psychiatry and Behavioral Sciences, Stanford Center for Sleep Sciences and Medicine, Stanford, CA 94305, USA., Halluin C; Department of Psychiatry and Behavioral Sciences, Stanford Center for Sleep Sciences and Medicine, Stanford, CA 94305, USA., Chen CC; Department of Computer Science, Stanford, CA 94305, USA., Bejerano G; Department of Computer Science, Stanford, CA 94305, USA.; Department of Developmental Biology, Stanford, CA 94305, USA.; Division of Medical Genetics, Department of Pediatrics, Stanford, CA 94305, USA., Mourrain P; Department of Psychiatry and Behavioral Sciences, Stanford Center for Sleep Sciences and Medicine, Stanford, CA 94305, USA.; INSERM 1024, Ecole Normale Supérieure Paris, 75005, France.
Source: Nucleic acids research [Nucleic Acids Res] 2018 Apr 20; Vol. 46 (7), pp. 3517-3531.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1362-4962
DOI:10.1093/nar/gky166