Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_assertion> ?p ?o ?g. }
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- NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_assertion type Assertion NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_head.
- NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_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." NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_provenance.
- NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_assertion evidence source_evidence_literature NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_provenance.
- NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_assertion SIO_000772 23939262 NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_provenance.
- NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_assertion wasDerivedFrom befree-20150227 NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_provenance.
- NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_assertion wasGeneratedBy ECO_0000203 NP735346.RAa62ElbMvmmzGnfnEI1r6BUuaS9XDFltcyntU09JcVsk130_provenance.