Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1101874.RAOpI07jO2IhKeiHfAsCgrfz270ZYDnSHyvCAe2yFW1jo130_assertion> ?p ?o ?g. }
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- NP1101874.RAOpI07jO2IhKeiHfAsCgrfz270ZYDnSHyvCAe2yFW1jo130_assertion type Assertion NP1101874.RAOpI07jO2IhKeiHfAsCgrfz270ZYDnSHyvCAe2yFW1jo130_head.
- NP1101874.RAOpI07jO2IhKeiHfAsCgrfz270ZYDnSHyvCAe2yFW1jo130_assertion description "[Autosomal recessive mutations in the TH gene cause impaired TH activity and are associated with phenotypes ranging from autosomal recessive dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1101874.RAOpI07jO2IhKeiHfAsCgrfz270ZYDnSHyvCAe2yFW1jo130_provenance.
- NP1101874.RAOpI07jO2IhKeiHfAsCgrfz270ZYDnSHyvCAe2yFW1jo130_assertion evidence source_evidence_literature NP1101874.RAOpI07jO2IhKeiHfAsCgrfz270ZYDnSHyvCAe2yFW1jo130_provenance.
- NP1101874.RAOpI07jO2IhKeiHfAsCgrfz270ZYDnSHyvCAe2yFW1jo130_assertion SIO_000772 23939262 NP1101874.RAOpI07jO2IhKeiHfAsCgrfz270ZYDnSHyvCAe2yFW1jo130_provenance.
- NP1101874.RAOpI07jO2IhKeiHfAsCgrfz270ZYDnSHyvCAe2yFW1jo130_assertion wasDerivedFrom befree-2016 NP1101874.RAOpI07jO2IhKeiHfAsCgrfz270ZYDnSHyvCAe2yFW1jo130_provenance.
- NP1101874.RAOpI07jO2IhKeiHfAsCgrfz270ZYDnSHyvCAe2yFW1jo130_assertion wasGeneratedBy ECO_0000203 NP1101874.RAOpI07jO2IhKeiHfAsCgrfz270ZYDnSHyvCAe2yFW1jo130_provenance.