Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP403882.RAPp0pcA_Hz-ICURWMViOJGNXZSL5TE6YEtY9GsricAVU130_assertion> ?p ?o ?g. }
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- NP403882.RAPp0pcA_Hz-ICURWMViOJGNXZSL5TE6YEtY9GsricAVU130_assertion type Assertion NP403882.RAPp0pcA_Hz-ICURWMViOJGNXZSL5TE6YEtY9GsricAVU130_head.
- 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.