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- source_evidence_literature type ECO_0000212 NP468947.RAYb4WlHsaHMLraOFOr8hHUnlDyZml-RinOSsmLuYW8xM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP468947.RAYb4WlHsaHMLraOFOr8hHUnlDyZml-RinOSsmLuYW8xM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP468947.RAYb4WlHsaHMLraOFOr8hHUnlDyZml-RinOSsmLuYW8xM130_provenance.
- NP468947.RAYb4WlHsaHMLraOFOr8hHUnlDyZml-RinOSsmLuYW8xM130_assertion description "[We report a Japanese family with distal hereditary motor neuronopathy type II (distal HMN II) due to a novel K141Q mutation in heat-shock 27-kDa protein 1 gene (HSPB1/HSP27).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP468947.RAYb4WlHsaHMLraOFOr8hHUnlDyZml-RinOSsmLuYW8xM130_provenance.
- NP468947.RAYb4WlHsaHMLraOFOr8hHUnlDyZml-RinOSsmLuYW8xM130_assertion evidence source_evidence_literature NP468947.RAYb4WlHsaHMLraOFOr8hHUnlDyZml-RinOSsmLuYW8xM130_provenance.
- NP468947.RAYb4WlHsaHMLraOFOr8hHUnlDyZml-RinOSsmLuYW8xM130_assertion SIO_000772 18952241 NP468947.RAYb4WlHsaHMLraOFOr8hHUnlDyZml-RinOSsmLuYW8xM130_provenance.
- NP468947.RAYb4WlHsaHMLraOFOr8hHUnlDyZml-RinOSsmLuYW8xM130_assertion wasDerivedFrom befree-20150227 NP468947.RAYb4WlHsaHMLraOFOr8hHUnlDyZml-RinOSsmLuYW8xM130_provenance.
- NP468947.RAYb4WlHsaHMLraOFOr8hHUnlDyZml-RinOSsmLuYW8xM130_assertion wasGeneratedBy ECO_0000203 NP468947.RAYb4WlHsaHMLraOFOr8hHUnlDyZml-RinOSsmLuYW8xM130_provenance.
- befree-20150227 importedOn "2015-02-27" NP468947.RAYb4WlHsaHMLraOFOr8hHUnlDyZml-RinOSsmLuYW8xM130_provenance.