Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1244291.RAqL1QF614GcX7UTCfgQ1vaxW_m12CXx8JatcA7FfhG_k130_assertion> ?p ?o ?g. }
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- NP1244291.RAqL1QF614GcX7UTCfgQ1vaxW_m12CXx8JatcA7FfhG_k130_assertion type Assertion NP1244291.RAqL1QF614GcX7UTCfgQ1vaxW_m12CXx8JatcA7FfhG_k130_head.
- NP1244291.RAqL1QF614GcX7UTCfgQ1vaxW_m12CXx8JatcA7FfhG_k130_assertion description "[Mucopolysaccharidosis type VII (MPS VII, Sly syndrome) is a very rare lysosomal storage disease caused by a deficiency of the enzyme ?-glucuronidase (GUS), which is required for the degradation of three glycosaminoglycans (GAGs): dermatan sulfate, heparan sulfate, and chondroitin sulfate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1244291.RAqL1QF614GcX7UTCfgQ1vaxW_m12CXx8JatcA7FfhG_k130_provenance.
- NP1244291.RAqL1QF614GcX7UTCfgQ1vaxW_m12CXx8JatcA7FfhG_k130_assertion evidence source_evidence_literature NP1244291.RAqL1QF614GcX7UTCfgQ1vaxW_m12CXx8JatcA7FfhG_k130_provenance.
- NP1244291.RAqL1QF614GcX7UTCfgQ1vaxW_m12CXx8JatcA7FfhG_k130_assertion SIO_000772 25468648 NP1244291.RAqL1QF614GcX7UTCfgQ1vaxW_m12CXx8JatcA7FfhG_k130_provenance.
- NP1244291.RAqL1QF614GcX7UTCfgQ1vaxW_m12CXx8JatcA7FfhG_k130_assertion wasDerivedFrom befree-2016 NP1244291.RAqL1QF614GcX7UTCfgQ1vaxW_m12CXx8JatcA7FfhG_k130_provenance.
- NP1244291.RAqL1QF614GcX7UTCfgQ1vaxW_m12CXx8JatcA7FfhG_k130_assertion wasGeneratedBy ECO_0000203 NP1244291.RAqL1QF614GcX7UTCfgQ1vaxW_m12CXx8JatcA7FfhG_k130_provenance.