Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP385494.RAmysiniMScjTz05hda5JLLcVsrgJwubxy9J5ukejYB_A130_assertion> ?p ?o ?g. }
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- NP385494.RAmysiniMScjTz05hda5JLLcVsrgJwubxy9J5ukejYB_A130_assertion type Assertion NP385494.RAmysiniMScjTz05hda5JLLcVsrgJwubxy9J5ukejYB_A130_head.
- NP385494.RAmysiniMScjTz05hda5JLLcVsrgJwubxy9J5ukejYB_A130_assertion description "[A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP385494.RAmysiniMScjTz05hda5JLLcVsrgJwubxy9J5ukejYB_A130_provenance.
- NP385494.RAmysiniMScjTz05hda5JLLcVsrgJwubxy9J5ukejYB_A130_assertion evidence source_evidence_literature NP385494.RAmysiniMScjTz05hda5JLLcVsrgJwubxy9J5ukejYB_A130_provenance.
- NP385494.RAmysiniMScjTz05hda5JLLcVsrgJwubxy9J5ukejYB_A130_assertion SIO_000772 12615648 NP385494.RAmysiniMScjTz05hda5JLLcVsrgJwubxy9J5ukejYB_A130_provenance.
- NP385494.RAmysiniMScjTz05hda5JLLcVsrgJwubxy9J5ukejYB_A130_assertion wasDerivedFrom befree-2016 NP385494.RAmysiniMScjTz05hda5JLLcVsrgJwubxy9J5ukejYB_A130_provenance.
- NP385494.RAmysiniMScjTz05hda5JLLcVsrgJwubxy9J5ukejYB_A130_assertion wasGeneratedBy ECO_0000203 NP385494.RAmysiniMScjTz05hda5JLLcVsrgJwubxy9J5ukejYB_A130_provenance.