Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_assertion> ?p ?o ?g. }
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- NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_assertion type Assertion NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_head.
- 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.