Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP279290.RACpqcIDgDoqF85iQdPZuT7VUuHrXAwIJ7q_mNzaW6Q5o130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP279290.RACpqcIDgDoqF85iQdPZuT7VUuHrXAwIJ7q_mNzaW6Q5o130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP279290.RACpqcIDgDoqF85iQdPZuT7VUuHrXAwIJ7q_mNzaW6Q5o130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP279290.RACpqcIDgDoqF85iQdPZuT7VUuHrXAwIJ7q_mNzaW6Q5o130_provenance.
- befree-2016 importedOn "2016-02-19" NP279290.RACpqcIDgDoqF85iQdPZuT7VUuHrXAwIJ7q_mNzaW6Q5o130_provenance.
- NP279290.RACpqcIDgDoqF85iQdPZuT7VUuHrXAwIJ7q_mNzaW6Q5o130_assertion wasGeneratedBy ECO_0000203 NP279290.RACpqcIDgDoqF85iQdPZuT7VUuHrXAwIJ7q_mNzaW6Q5o130_provenance.
- NP279290.RACpqcIDgDoqF85iQdPZuT7VUuHrXAwIJ7q_mNzaW6Q5o130_assertion wasDerivedFrom befree-2016 NP279290.RACpqcIDgDoqF85iQdPZuT7VUuHrXAwIJ7q_mNzaW6Q5o130_provenance.
- NP279290.RACpqcIDgDoqF85iQdPZuT7VUuHrXAwIJ7q_mNzaW6Q5o130_assertion SIO_000772 10737990 NP279290.RACpqcIDgDoqF85iQdPZuT7VUuHrXAwIJ7q_mNzaW6Q5o130_provenance.
- NP279290.RACpqcIDgDoqF85iQdPZuT7VUuHrXAwIJ7q_mNzaW6Q5o130_assertion evidence source_evidence_literature NP279290.RACpqcIDgDoqF85iQdPZuT7VUuHrXAwIJ7q_mNzaW6Q5o130_provenance.
- NP279290.RACpqcIDgDoqF85iQdPZuT7VUuHrXAwIJ7q_mNzaW6Q5o130_assertion description "[We have determined the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT; HPRT1) deficiency in eight Lesch-Nyhan patients and in five partially HPRT deficient patients with mild to severe neurologic symptoms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP279290.RACpqcIDgDoqF85iQdPZuT7VUuHrXAwIJ7q_mNzaW6Q5o130_provenance.