Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP246957.RAoaSJjrGHSta752SXeKbAACNlQlEQ7g7xLWmyhuXMA9s130_assertion> ?p ?o ?g. }
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- NP246957.RAoaSJjrGHSta752SXeKbAACNlQlEQ7g7xLWmyhuXMA9s130_assertion type Assertion NP246957.RAoaSJjrGHSta752SXeKbAACNlQlEQ7g7xLWmyhuXMA9s130_head.
- NP246957.RAoaSJjrGHSta752SXeKbAACNlQlEQ7g7xLWmyhuXMA9s130_assertion description "[Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1) (MIM: 212065) is an autosomal recessive disorder with psychomotor retardation, strokelike episodes, ataxia, and olivopontocerebellar atrophy (OPCA) of neonatal onset.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP246957.RAoaSJjrGHSta752SXeKbAACNlQlEQ7g7xLWmyhuXMA9s130_provenance.
- NP246957.RAoaSJjrGHSta752SXeKbAACNlQlEQ7g7xLWmyhuXMA9s130_assertion evidence source_evidence_literature NP246957.RAoaSJjrGHSta752SXeKbAACNlQlEQ7g7xLWmyhuXMA9s130_provenance.
- NP246957.RAoaSJjrGHSta752SXeKbAACNlQlEQ7g7xLWmyhuXMA9s130_assertion SIO_000772 10066032 NP246957.RAoaSJjrGHSta752SXeKbAACNlQlEQ7g7xLWmyhuXMA9s130_provenance.
- NP246957.RAoaSJjrGHSta752SXeKbAACNlQlEQ7g7xLWmyhuXMA9s130_assertion wasDerivedFrom befree-2016 NP246957.RAoaSJjrGHSta752SXeKbAACNlQlEQ7g7xLWmyhuXMA9s130_provenance.
- NP246957.RAoaSJjrGHSta752SXeKbAACNlQlEQ7g7xLWmyhuXMA9s130_assertion wasGeneratedBy ECO_0000203 NP246957.RAoaSJjrGHSta752SXeKbAACNlQlEQ7g7xLWmyhuXMA9s130_provenance.