Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP398734.RAnDE_Xa_TL0aXp4mGXPS_fVOtOepCdI48MEc_fg2McTQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP398734.RAnDE_Xa_TL0aXp4mGXPS_fVOtOepCdI48MEc_fg2McTQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP398734.RAnDE_Xa_TL0aXp4mGXPS_fVOtOepCdI48MEc_fg2McTQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP398734.RAnDE_Xa_TL0aXp4mGXPS_fVOtOepCdI48MEc_fg2McTQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP398734.RAnDE_Xa_TL0aXp4mGXPS_fVOtOepCdI48MEc_fg2McTQ130_provenance.
- NP398734.RAnDE_Xa_TL0aXp4mGXPS_fVOtOepCdI48MEc_fg2McTQ130_assertion wasGeneratedBy ECO_0000203 NP398734.RAnDE_Xa_TL0aXp4mGXPS_fVOtOepCdI48MEc_fg2McTQ130_provenance.
- NP398734.RAnDE_Xa_TL0aXp4mGXPS_fVOtOepCdI48MEc_fg2McTQ130_assertion wasDerivedFrom befree-2016 NP398734.RAnDE_Xa_TL0aXp4mGXPS_fVOtOepCdI48MEc_fg2McTQ130_provenance.
- NP398734.RAnDE_Xa_TL0aXp4mGXPS_fVOtOepCdI48MEc_fg2McTQ130_assertion SIO_000772 12815654 NP398734.RAnDE_Xa_TL0aXp4mGXPS_fVOtOepCdI48MEc_fg2McTQ130_provenance.
- NP398734.RAnDE_Xa_TL0aXp4mGXPS_fVOtOepCdI48MEc_fg2McTQ130_assertion evidence source_evidence_literature NP398734.RAnDE_Xa_TL0aXp4mGXPS_fVOtOepCdI48MEc_fg2McTQ130_provenance.
- NP398734.RAnDE_Xa_TL0aXp4mGXPS_fVOtOepCdI48MEc_fg2McTQ130_assertion description "[We report a novel heterozygous 40 base pair deletion in exon 3 of the parkin gene that increases the susceptibility of carriers to develop parkinsonism/dystonia and manifests remarkable variability in regard to age of onset and phenotype in a single family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP398734.RAnDE_Xa_TL0aXp4mGXPS_fVOtOepCdI48MEc_fg2McTQ130_provenance.