Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP330257.RAH9PAjuMeqmlkBVOHa-igPvMbDLYZHg8EY2ZyX3NYqg0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP330257.RAH9PAjuMeqmlkBVOHa-igPvMbDLYZHg8EY2ZyX3NYqg0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP330257.RAH9PAjuMeqmlkBVOHa-igPvMbDLYZHg8EY2ZyX3NYqg0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP330257.RAH9PAjuMeqmlkBVOHa-igPvMbDLYZHg8EY2ZyX3NYqg0130_provenance.
- befree-2016 importedOn "2016-02-19" NP330257.RAH9PAjuMeqmlkBVOHa-igPvMbDLYZHg8EY2ZyX3NYqg0130_provenance.
- NP330257.RAH9PAjuMeqmlkBVOHa-igPvMbDLYZHg8EY2ZyX3NYqg0130_assertion wasGeneratedBy ECO_0000203 NP330257.RAH9PAjuMeqmlkBVOHa-igPvMbDLYZHg8EY2ZyX3NYqg0130_provenance.
- NP330257.RAH9PAjuMeqmlkBVOHa-igPvMbDLYZHg8EY2ZyX3NYqg0130_assertion wasDerivedFrom befree-2016 NP330257.RAH9PAjuMeqmlkBVOHa-igPvMbDLYZHg8EY2ZyX3NYqg0130_provenance.
- NP330257.RAH9PAjuMeqmlkBVOHa-igPvMbDLYZHg8EY2ZyX3NYqg0130_assertion SIO_000772 11558903 NP330257.RAH9PAjuMeqmlkBVOHa-igPvMbDLYZHg8EY2ZyX3NYqg0130_provenance.
- NP330257.RAH9PAjuMeqmlkBVOHa-igPvMbDLYZHg8EY2ZyX3NYqg0130_assertion evidence source_evidence_literature NP330257.RAH9PAjuMeqmlkBVOHa-igPvMbDLYZHg8EY2ZyX3NYqg0130_provenance.
- NP330257.RAH9PAjuMeqmlkBVOHa-igPvMbDLYZHg8EY2ZyX3NYqg0130_assertion description "[Two sulfation-related genes have been reported as the causal genes of severe chondrodysplasias: mutations in PAPSS2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2) cause spondylo-epimetaphyseal dysplasia (SEMD), and mutations in SLC26A2 (solute carrier family 26, member 2) cause diastrophic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP330257.RAH9PAjuMeqmlkBVOHa-igPvMbDLYZHg8EY2ZyX3NYqg0130_provenance.