Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1127697.RALNTqPbgfO5JQsIXIq2dnt05y12UShrOxl19gJiEBmiU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1127697.RALNTqPbgfO5JQsIXIq2dnt05y12UShrOxl19gJiEBmiU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1127697.RALNTqPbgfO5JQsIXIq2dnt05y12UShrOxl19gJiEBmiU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1127697.RALNTqPbgfO5JQsIXIq2dnt05y12UShrOxl19gJiEBmiU130_provenance.
- NP1127697.RALNTqPbgfO5JQsIXIq2dnt05y12UShrOxl19gJiEBmiU130_assertion description "[We identified a PRNP Y163X truncation mutation and describe a distinct and consistent phenotype of chronic diarrhea with autonomic failure and a length-dependent axonal, predominantly sensory, peripheral polyneuropathy with an onset in early adulthood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1127697.RALNTqPbgfO5JQsIXIq2dnt05y12UShrOxl19gJiEBmiU130_provenance.
- NP1127697.RALNTqPbgfO5JQsIXIq2dnt05y12UShrOxl19gJiEBmiU130_assertion evidence source_evidence_literature NP1127697.RALNTqPbgfO5JQsIXIq2dnt05y12UShrOxl19gJiEBmiU130_provenance.
- NP1127697.RALNTqPbgfO5JQsIXIq2dnt05y12UShrOxl19gJiEBmiU130_assertion SIO_000772 24224623 NP1127697.RALNTqPbgfO5JQsIXIq2dnt05y12UShrOxl19gJiEBmiU130_provenance.
- NP1127697.RALNTqPbgfO5JQsIXIq2dnt05y12UShrOxl19gJiEBmiU130_assertion wasDerivedFrom befree-2016 NP1127697.RALNTqPbgfO5JQsIXIq2dnt05y12UShrOxl19gJiEBmiU130_provenance.
- NP1127697.RALNTqPbgfO5JQsIXIq2dnt05y12UShrOxl19gJiEBmiU130_assertion wasGeneratedBy ECO_0000203 NP1127697.RALNTqPbgfO5JQsIXIq2dnt05y12UShrOxl19gJiEBmiU130_provenance.
- befree-2016 importedOn "2016-02-19" NP1127697.RALNTqPbgfO5JQsIXIq2dnt05y12UShrOxl19gJiEBmiU130_provenance.