Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP798721.RAUJ8rY-9YAL_XHIBmt936X3eHleWNpFFV88ygcAtYF1c130_assertion> ?p ?o ?g. }
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- NP798721.RAUJ8rY-9YAL_XHIBmt936X3eHleWNpFFV88ygcAtYF1c130_assertion type Assertion NP798721.RAUJ8rY-9YAL_XHIBmt936X3eHleWNpFFV88ygcAtYF1c130_head.
- NP798721.RAUJ8rY-9YAL_XHIBmt936X3eHleWNpFFV88ygcAtYF1c130_assertion description "[The results provide novel mutations and copy number aberrations of CASK, causing MR with MICPCH, and also demonstrate the similarity of the phenotypes of MR with MICPCH regardless of the CASK mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP798721.RAUJ8rY-9YAL_XHIBmt936X3eHleWNpFFV88ygcAtYF1c130_provenance.
- NP798721.RAUJ8rY-9YAL_XHIBmt936X3eHleWNpFFV88ygcAtYF1c130_assertion evidence source_evidence_literature NP798721.RAUJ8rY-9YAL_XHIBmt936X3eHleWNpFFV88ygcAtYF1c130_provenance.
- NP798721.RAUJ8rY-9YAL_XHIBmt936X3eHleWNpFFV88ygcAtYF1c130_assertion SIO_000772 21735175 NP798721.RAUJ8rY-9YAL_XHIBmt936X3eHleWNpFFV88ygcAtYF1c130_provenance.
- NP798721.RAUJ8rY-9YAL_XHIBmt936X3eHleWNpFFV88ygcAtYF1c130_assertion wasDerivedFrom befree-20150227 NP798721.RAUJ8rY-9YAL_XHIBmt936X3eHleWNpFFV88ygcAtYF1c130_provenance.
- NP798721.RAUJ8rY-9YAL_XHIBmt936X3eHleWNpFFV88ygcAtYF1c130_assertion wasGeneratedBy ECO_0000203 NP798721.RAUJ8rY-9YAL_XHIBmt936X3eHleWNpFFV88ygcAtYF1c130_provenance.