Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP850868.RAxx4lGbzPmAvqT_I_BeP6LZ58pWar8C80pHiY7Sa-BSs130_assertion> ?p ?o ?g. }
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- NP850868.RAxx4lGbzPmAvqT_I_BeP6LZ58pWar8C80pHiY7Sa-BSs130_assertion type Assertion NP850868.RAxx4lGbzPmAvqT_I_BeP6LZ58pWar8C80pHiY7Sa-BSs130_head.
- NP850868.RAxx4lGbzPmAvqT_I_BeP6LZ58pWar8C80pHiY7Sa-BSs130_assertion wasGeneratedBy ECO_0000203 NP850868.RAxx4lGbzPmAvqT_I_BeP6LZ58pWar8C80pHiY7Sa-BSs130_provenance.
- NP850868.RAxx4lGbzPmAvqT_I_BeP6LZ58pWar8C80pHiY7Sa-BSs130_assertion wasDerivedFrom befree-20140225 NP850868.RAxx4lGbzPmAvqT_I_BeP6LZ58pWar8C80pHiY7Sa-BSs130_provenance.
- NP850868.RAxx4lGbzPmAvqT_I_BeP6LZ58pWar8C80pHiY7Sa-BSs130_assertion SIO_000772 21633362 NP850868.RAxx4lGbzPmAvqT_I_BeP6LZ58pWar8C80pHiY7Sa-BSs130_provenance.
- NP850868.RAxx4lGbzPmAvqT_I_BeP6LZ58pWar8C80pHiY7Sa-BSs130_assertion evidence source_evidence_literature NP850868.RAxx4lGbzPmAvqT_I_BeP6LZ58pWar8C80pHiY7Sa-BSs130_provenance.
- NP850868.RAxx4lGbzPmAvqT_I_BeP6LZ58pWar8C80pHiY7Sa-BSs130_assertion description "[Microarray-based comparative genomic hybridization analysis identified a 737-kb microdeletion of Xq11.1, including the cell division cycle 42 guanine nucleotide exchange factor (GEF)-9 gene (ARHGEF9), encoding collybistin, which has a pivotal role in formation of postsynaptic glycine and γ-aminobutyric acid receptor clusters, in a male patient with severe mental retardation and epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP850868.RAxx4lGbzPmAvqT_I_BeP6LZ58pWar8C80pHiY7Sa-BSs130_provenance.