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- source_evidence_literature type ECO_0000212 NP295714.RAnQkAx8fTjJwoJQEsJC0mm_eb-JlcE9nF_RKKT_0Gbvo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP295714.RAnQkAx8fTjJwoJQEsJC0mm_eb-JlcE9nF_RKKT_0Gbvo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP295714.RAnQkAx8fTjJwoJQEsJC0mm_eb-JlcE9nF_RKKT_0Gbvo130_provenance.
- 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.
- befree-20150227 importedOn "2015-02-27" NP295714.RAnQkAx8fTjJwoJQEsJC0mm_eb-JlcE9nF_RKKT_0Gbvo130_provenance.