Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP831523.RA-Z4FCCSlYl76pz3JUy8elbSd9_6HuhfH05ZTZ-LRfGA130_assertion> ?p ?o ?g. }
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- NP831523.RA-Z4FCCSlYl76pz3JUy8elbSd9_6HuhfH05ZTZ-LRfGA130_assertion type Assertion NP831523.RA-Z4FCCSlYl76pz3JUy8elbSd9_6HuhfH05ZTZ-LRfGA130_head.
- NP831523.RA-Z4FCCSlYl76pz3JUy8elbSd9_6HuhfH05ZTZ-LRfGA130_assertion wasGeneratedBy ECO_0000203 NP831523.RA-Z4FCCSlYl76pz3JUy8elbSd9_6HuhfH05ZTZ-LRfGA130_provenance.
- NP831523.RA-Z4FCCSlYl76pz3JUy8elbSd9_6HuhfH05ZTZ-LRfGA130_assertion wasDerivedFrom befree-20150227 NP831523.RA-Z4FCCSlYl76pz3JUy8elbSd9_6HuhfH05ZTZ-LRfGA130_provenance.
- NP831523.RA-Z4FCCSlYl76pz3JUy8elbSd9_6HuhfH05ZTZ-LRfGA130_assertion SIO_000772 15383666 NP831523.RA-Z4FCCSlYl76pz3JUy8elbSd9_6HuhfH05ZTZ-LRfGA130_provenance.
- NP831523.RA-Z4FCCSlYl76pz3JUy8elbSd9_6HuhfH05ZTZ-LRfGA130_assertion evidence source_evidence_literature NP831523.RA-Z4FCCSlYl76pz3JUy8elbSd9_6HuhfH05ZTZ-LRfGA130_provenance.
- NP831523.RA-Z4FCCSlYl76pz3JUy8elbSd9_6HuhfH05ZTZ-LRfGA130_assertion description "[Mutations in the hPOMT1 gene are responsible for Walker-Warburg syndrome (WWS), a severe recessive congenital muscular dystrophy associated with defects in neuronal migration that produce complex brain and eye abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP831523.RA-Z4FCCSlYl76pz3JUy8elbSd9_6HuhfH05ZTZ-LRfGA130_provenance.