Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP647639.RAa-27xO9nm77-32Rxv3o8-35Ek-5m3-aiHE2S8XycCL0130_assertion> ?p ?o ?g. }
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- NP647639.RAa-27xO9nm77-32Rxv3o8-35Ek-5m3-aiHE2S8XycCL0130_assertion type Assertion NP647639.RAa-27xO9nm77-32Rxv3o8-35Ek-5m3-aiHE2S8XycCL0130_head.
- NP647639.RAa-27xO9nm77-32Rxv3o8-35Ek-5m3-aiHE2S8XycCL0130_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." NP647639.RAa-27xO9nm77-32Rxv3o8-35Ek-5m3-aiHE2S8XycCL0130_provenance.
- NP647639.RAa-27xO9nm77-32Rxv3o8-35Ek-5m3-aiHE2S8XycCL0130_assertion evidence source_evidence_literature NP647639.RAa-27xO9nm77-32Rxv3o8-35Ek-5m3-aiHE2S8XycCL0130_provenance.
- NP647639.RAa-27xO9nm77-32Rxv3o8-35Ek-5m3-aiHE2S8XycCL0130_assertion SIO_000772 24224623 NP647639.RAa-27xO9nm77-32Rxv3o8-35Ek-5m3-aiHE2S8XycCL0130_provenance.
- NP647639.RAa-27xO9nm77-32Rxv3o8-35Ek-5m3-aiHE2S8XycCL0130_assertion wasDerivedFrom befree-20150227 NP647639.RAa-27xO9nm77-32Rxv3o8-35Ek-5m3-aiHE2S8XycCL0130_provenance.
- NP647639.RAa-27xO9nm77-32Rxv3o8-35Ek-5m3-aiHE2S8XycCL0130_assertion wasGeneratedBy ECO_0000203 NP647639.RAa-27xO9nm77-32Rxv3o8-35Ek-5m3-aiHE2S8XycCL0130_provenance.