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- source_evidence_literature type ECO_0000212 NP707548.RAastZIFWmpaz1-_lOa1i7-7aXDjn03zN72jAcXEk0bpo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP707548.RAastZIFWmpaz1-_lOa1i7-7aXDjn03zN72jAcXEk0bpo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP707548.RAastZIFWmpaz1-_lOa1i7-7aXDjn03zN72jAcXEk0bpo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP707548.RAastZIFWmpaz1-_lOa1i7-7aXDjn03zN72jAcXEk0bpo130_provenance.
- NP707548.RAastZIFWmpaz1-_lOa1i7-7aXDjn03zN72jAcXEk0bpo130_assertion wasGeneratedBy ECO_0000203 NP707548.RAastZIFWmpaz1-_lOa1i7-7aXDjn03zN72jAcXEk0bpo130_provenance.
- NP707548.RAastZIFWmpaz1-_lOa1i7-7aXDjn03zN72jAcXEk0bpo130_assertion wasDerivedFrom befree-20150227 NP707548.RAastZIFWmpaz1-_lOa1i7-7aXDjn03zN72jAcXEk0bpo130_provenance.
- NP707548.RAastZIFWmpaz1-_lOa1i7-7aXDjn03zN72jAcXEk0bpo130_assertion SIO_000772 21633362 NP707548.RAastZIFWmpaz1-_lOa1i7-7aXDjn03zN72jAcXEk0bpo130_provenance.
- NP707548.RAastZIFWmpaz1-_lOa1i7-7aXDjn03zN72jAcXEk0bpo130_assertion evidence source_evidence_literature NP707548.RAastZIFWmpaz1-_lOa1i7-7aXDjn03zN72jAcXEk0bpo130_provenance.
- NP707548.RAastZIFWmpaz1-_lOa1i7-7aXDjn03zN72jAcXEk0bpo130_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." NP707548.RAastZIFWmpaz1-_lOa1i7-7aXDjn03zN72jAcXEk0bpo130_provenance.