Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1373298.RAlCHwL_bnmrzJSIq9BU2KcFNBJFyenzoIsXPFtttO040130_assertion> ?p ?o ?g. }
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- NP1373298.RAlCHwL_bnmrzJSIq9BU2KcFNBJFyenzoIsXPFtttO040130_assertion type Assertion NP1373298.RAlCHwL_bnmrzJSIq9BU2KcFNBJFyenzoIsXPFtttO040130_head.
- NP1373298.RAlCHwL_bnmrzJSIq9BU2KcFNBJFyenzoIsXPFtttO040130_assertion description "[Sanfilippo A syndrome (mucopolysaccharidosis type IIIA, MPS-IIIA) is an autosomal recessive neurodegenerative disorder due to an enzymatic defect of the lysosomal enzyme sulphamidase (EC 3.10.1.1) required for the degradation of heparan sulphate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1373298.RAlCHwL_bnmrzJSIq9BU2KcFNBJFyenzoIsXPFtttO040130_provenance.
- NP1373298.RAlCHwL_bnmrzJSIq9BU2KcFNBJFyenzoIsXPFtttO040130_assertion evidence source_evidence_literature NP1373298.RAlCHwL_bnmrzJSIq9BU2KcFNBJFyenzoIsXPFtttO040130_provenance.
- NP1373298.RAlCHwL_bnmrzJSIq9BU2KcFNBJFyenzoIsXPFtttO040130_assertion SIO_000772 9158154 NP1373298.RAlCHwL_bnmrzJSIq9BU2KcFNBJFyenzoIsXPFtttO040130_provenance.
- NP1373298.RAlCHwL_bnmrzJSIq9BU2KcFNBJFyenzoIsXPFtttO040130_assertion wasDerivedFrom befree-2016 NP1373298.RAlCHwL_bnmrzJSIq9BU2KcFNBJFyenzoIsXPFtttO040130_provenance.
- NP1373298.RAlCHwL_bnmrzJSIq9BU2KcFNBJFyenzoIsXPFtttO040130_assertion wasGeneratedBy ECO_0000203 NP1373298.RAlCHwL_bnmrzJSIq9BU2KcFNBJFyenzoIsXPFtttO040130_provenance.