Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP295714.RAnQkAx8fTjJwoJQEsJC0mm_eb-JlcE9nF_RKKT_0Gbvo130_assertion> ?p ?o ?g. }
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- NP295714.RAnQkAx8fTjJwoJQEsJC0mm_eb-JlcE9nF_RKKT_0Gbvo130_assertion type Assertion NP295714.RAnQkAx8fTjJwoJQEsJC0mm_eb-JlcE9nF_RKKT_0Gbvo130_head.
- NP295714.RAnQkAx8fTjJwoJQEsJC0mm_eb-JlcE9nF_RKKT_0Gbvo130_assertion description "[Hereditary multiple exostoses (HME), an autosomal skeletal disorder characterized by cartilage-capped excrescences, has been ascribed to mutations in EXT 1 and EXT 2, two tumor suppressor-related genes encoding glycosyltransferases involved in the heparan sulfate proteoglycan (HSPG) biosynthesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP295714.RAnQkAx8fTjJwoJQEsJC0mm_eb-JlcE9nF_RKKT_0Gbvo130_provenance.
- NP295714.RAnQkAx8fTjJwoJQEsJC0mm_eb-JlcE9nF_RKKT_0Gbvo130_assertion evidence source_evidence_literature NP295714.RAnQkAx8fTjJwoJQEsJC0mm_eb-JlcE9nF_RKKT_0Gbvo130_provenance.
- NP295714.RAnQkAx8fTjJwoJQEsJC0mm_eb-JlcE9nF_RKKT_0Gbvo130_assertion SIO_000772 10934647 NP295714.RAnQkAx8fTjJwoJQEsJC0mm_eb-JlcE9nF_RKKT_0Gbvo130_provenance.
- NP295714.RAnQkAx8fTjJwoJQEsJC0mm_eb-JlcE9nF_RKKT_0Gbvo130_assertion wasDerivedFrom befree-20150227 NP295714.RAnQkAx8fTjJwoJQEsJC0mm_eb-JlcE9nF_RKKT_0Gbvo130_provenance.
- NP295714.RAnQkAx8fTjJwoJQEsJC0mm_eb-JlcE9nF_RKKT_0Gbvo130_assertion wasGeneratedBy ECO_0000203 NP295714.RAnQkAx8fTjJwoJQEsJC0mm_eb-JlcE9nF_RKKT_0Gbvo130_provenance.