Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP403150.RAYi5_offAGRq0qXaxvjwLo0RT2GXjyY1BVi5bNlbfTlI130_assertion> ?p ?o ?g. }
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- NP403150.RAYi5_offAGRq0qXaxvjwLo0RT2GXjyY1BVi5bNlbfTlI130_assertion type Assertion NP403150.RAYi5_offAGRq0qXaxvjwLo0RT2GXjyY1BVi5bNlbfTlI130_head.
- NP403150.RAYi5_offAGRq0qXaxvjwLo0RT2GXjyY1BVi5bNlbfTlI130_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." NP403150.RAYi5_offAGRq0qXaxvjwLo0RT2GXjyY1BVi5bNlbfTlI130_provenance.
- NP403150.RAYi5_offAGRq0qXaxvjwLo0RT2GXjyY1BVi5bNlbfTlI130_assertion evidence source_evidence_literature NP403150.RAYi5_offAGRq0qXaxvjwLo0RT2GXjyY1BVi5bNlbfTlI130_provenance.
- NP403150.RAYi5_offAGRq0qXaxvjwLo0RT2GXjyY1BVi5bNlbfTlI130_assertion SIO_000772 20729831 NP403150.RAYi5_offAGRq0qXaxvjwLo0RT2GXjyY1BVi5bNlbfTlI130_provenance.
- NP403150.RAYi5_offAGRq0qXaxvjwLo0RT2GXjyY1BVi5bNlbfTlI130_assertion wasDerivedFrom befree-20140225 NP403150.RAYi5_offAGRq0qXaxvjwLo0RT2GXjyY1BVi5bNlbfTlI130_provenance.
- NP403150.RAYi5_offAGRq0qXaxvjwLo0RT2GXjyY1BVi5bNlbfTlI130_assertion wasGeneratedBy ECO_0000203 NP403150.RAYi5_offAGRq0qXaxvjwLo0RT2GXjyY1BVi5bNlbfTlI130_provenance.