Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_provenance.
- NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_assertion description "[Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_provenance.
- NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_assertion evidence source_evidence_literature NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_provenance.
- NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_assertion SIO_000772 20729831 NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_provenance.
- NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_assertion wasDerivedFrom befree-20140225 NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_provenance.
- NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_assertion wasGeneratedBy ECO_0000203 NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_provenance.