Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP984268.RAJV1gzIQ0QWsWEIbhzNaOuLjm6YxfWuB5tCOiYg4ac6M130_assertion> ?p ?o ?g. }
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- NP984268.RAJV1gzIQ0QWsWEIbhzNaOuLjm6YxfWuB5tCOiYg4ac6M130_assertion type Assertion NP984268.RAJV1gzIQ0QWsWEIbhzNaOuLjm6YxfWuB5tCOiYg4ac6M130_head.
- NP984268.RAJV1gzIQ0QWsWEIbhzNaOuLjm6YxfWuB5tCOiYg4ac6M130_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." NP984268.RAJV1gzIQ0QWsWEIbhzNaOuLjm6YxfWuB5tCOiYg4ac6M130_provenance.
- NP984268.RAJV1gzIQ0QWsWEIbhzNaOuLjm6YxfWuB5tCOiYg4ac6M130_assertion evidence source_evidence_literature NP984268.RAJV1gzIQ0QWsWEIbhzNaOuLjm6YxfWuB5tCOiYg4ac6M130_provenance.
- NP984268.RAJV1gzIQ0QWsWEIbhzNaOuLjm6YxfWuB5tCOiYg4ac6M130_assertion SIO_000772 20729831 NP984268.RAJV1gzIQ0QWsWEIbhzNaOuLjm6YxfWuB5tCOiYg4ac6M130_provenance.
- NP984268.RAJV1gzIQ0QWsWEIbhzNaOuLjm6YxfWuB5tCOiYg4ac6M130_assertion wasDerivedFrom befree-20150227 NP984268.RAJV1gzIQ0QWsWEIbhzNaOuLjm6YxfWuB5tCOiYg4ac6M130_provenance.
- NP984268.RAJV1gzIQ0QWsWEIbhzNaOuLjm6YxfWuB5tCOiYg4ac6M130_assertion wasGeneratedBy ECO_0000203 NP984268.RAJV1gzIQ0QWsWEIbhzNaOuLjm6YxfWuB5tCOiYg4ac6M130_provenance.