Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP647832.RAvEkbPEmljgIT1BwCFceTX3QhnvGbcpeW7M6ziNX4L6U130_assertion> ?p ?o ?g. }
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- NP647832.RAvEkbPEmljgIT1BwCFceTX3QhnvGbcpeW7M6ziNX4L6U130_assertion type Assertion NP647832.RAvEkbPEmljgIT1BwCFceTX3QhnvGbcpeW7M6ziNX4L6U130_head.
- NP647832.RAvEkbPEmljgIT1BwCFceTX3QhnvGbcpeW7M6ziNX4L6U130_assertion wasGeneratedBy ECO_0000203 NP647832.RAvEkbPEmljgIT1BwCFceTX3QhnvGbcpeW7M6ziNX4L6U130_provenance.
- NP647832.RAvEkbPEmljgIT1BwCFceTX3QhnvGbcpeW7M6ziNX4L6U130_assertion wasDerivedFrom befree-20140225 NP647832.RAvEkbPEmljgIT1BwCFceTX3QhnvGbcpeW7M6ziNX4L6U130_provenance.
- NP647832.RAvEkbPEmljgIT1BwCFceTX3QhnvGbcpeW7M6ziNX4L6U130_assertion SIO_000772 22452838 NP647832.RAvEkbPEmljgIT1BwCFceTX3QhnvGbcpeW7M6ziNX4L6U130_provenance.
- NP647832.RAvEkbPEmljgIT1BwCFceTX3QhnvGbcpeW7M6ziNX4L6U130_assertion evidence source_evidence_literature NP647832.RAvEkbPEmljgIT1BwCFceTX3QhnvGbcpeW7M6ziNX4L6U130_provenance.
- NP647832.RAvEkbPEmljgIT1BwCFceTX3QhnvGbcpeW7M6ziNX4L6U130_assertion description "[PCH is most often autosomal recessive though de novo anomalies in the X-linked gene CASK have recently been identified in patients, mostly females, presenting with intellectual disability, microcephaly and PCH (MICPCH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP647832.RAvEkbPEmljgIT1BwCFceTX3QhnvGbcpeW7M6ziNX4L6U130_provenance.