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- source_evidence_literature type ECO_0000212 NP385494.RAmysiniMScjTz05hda5JLLcVsrgJwubxy9J5ukejYB_A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP385494.RAmysiniMScjTz05hda5JLLcVsrgJwubxy9J5ukejYB_A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP385494.RAmysiniMScjTz05hda5JLLcVsrgJwubxy9J5ukejYB_A130_provenance.
- 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.
- befree-2016 importedOn "2016-02-19" NP385494.RAmysiniMScjTz05hda5JLLcVsrgJwubxy9J5ukejYB_A130_provenance.