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- source_evidence_literature type ECO_0000212 NP403882.RAPp0pcA_Hz-ICURWMViOJGNXZSL5TE6YEtY9GsricAVU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP403882.RAPp0pcA_Hz-ICURWMViOJGNXZSL5TE6YEtY9GsricAVU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP403882.RAPp0pcA_Hz-ICURWMViOJGNXZSL5TE6YEtY9GsricAVU130_provenance.
- NP403882.RAPp0pcA_Hz-ICURWMViOJGNXZSL5TE6YEtY9GsricAVU130_assertion description "[Recessively inherited deficiency of TH was recently identified and incorporated into recent concepts of genetic dystonias as the cause of recessive Dopa-responsive dystonia or Segawa's syndrome in analogy to dominantly inherited GTP cyclohydrolase I deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP403882.RAPp0pcA_Hz-ICURWMViOJGNXZSL5TE6YEtY9GsricAVU130_provenance.
- NP403882.RAPp0pcA_Hz-ICURWMViOJGNXZSL5TE6YEtY9GsricAVU130_assertion evidence source_evidence_literature NP403882.RAPp0pcA_Hz-ICURWMViOJGNXZSL5TE6YEtY9GsricAVU130_provenance.
- NP403882.RAPp0pcA_Hz-ICURWMViOJGNXZSL5TE6YEtY9GsricAVU130_assertion SIO_000772 12891655 NP403882.RAPp0pcA_Hz-ICURWMViOJGNXZSL5TE6YEtY9GsricAVU130_provenance.
- NP403882.RAPp0pcA_Hz-ICURWMViOJGNXZSL5TE6YEtY9GsricAVU130_assertion wasDerivedFrom befree-2016 NP403882.RAPp0pcA_Hz-ICURWMViOJGNXZSL5TE6YEtY9GsricAVU130_provenance.
- NP403882.RAPp0pcA_Hz-ICURWMViOJGNXZSL5TE6YEtY9GsricAVU130_assertion wasGeneratedBy ECO_0000203 NP403882.RAPp0pcA_Hz-ICURWMViOJGNXZSL5TE6YEtY9GsricAVU130_provenance.
- befree-2016 importedOn "2016-02-19" NP403882.RAPp0pcA_Hz-ICURWMViOJGNXZSL5TE6YEtY9GsricAVU130_provenance.