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- source_evidence_literature type ECO_0000212 NP1213017.RA7bAm7PfvoUbU2dfETigCeq5Jk7W-l9ZRoSl1bELl7Ho130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1213017.RA7bAm7PfvoUbU2dfETigCeq5Jk7W-l9ZRoSl1bELl7Ho130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1213017.RA7bAm7PfvoUbU2dfETigCeq5Jk7W-l9ZRoSl1bELl7Ho130_provenance.
- NP1213017.RA7bAm7PfvoUbU2dfETigCeq5Jk7W-l9ZRoSl1bELl7Ho130_assertion description "[He required many other diagnostic investigations for neurodegenerative disorders, but was eventually confirmed as having Niemann-Pick disease type C with excessive free cholesterol using filipin staining and zero activity for cholesterol esterification in fibroblast as well as two pathogenic mutations in the NPC1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1213017.RA7bAm7PfvoUbU2dfETigCeq5Jk7W-l9ZRoSl1bELl7Ho130_provenance.
- NP1213017.RA7bAm7PfvoUbU2dfETigCeq5Jk7W-l9ZRoSl1bELl7Ho130_assertion evidence source_evidence_literature NP1213017.RA7bAm7PfvoUbU2dfETigCeq5Jk7W-l9ZRoSl1bELl7Ho130_provenance.
- NP1213017.RA7bAm7PfvoUbU2dfETigCeq5Jk7W-l9ZRoSl1bELl7Ho130_assertion SIO_000772 25149939 NP1213017.RA7bAm7PfvoUbU2dfETigCeq5Jk7W-l9ZRoSl1bELl7Ho130_provenance.
- NP1213017.RA7bAm7PfvoUbU2dfETigCeq5Jk7W-l9ZRoSl1bELl7Ho130_assertion wasDerivedFrom befree-2016 NP1213017.RA7bAm7PfvoUbU2dfETigCeq5Jk7W-l9ZRoSl1bELl7Ho130_provenance.
- NP1213017.RA7bAm7PfvoUbU2dfETigCeq5Jk7W-l9ZRoSl1bELl7Ho130_assertion wasGeneratedBy ECO_0000203 NP1213017.RA7bAm7PfvoUbU2dfETigCeq5Jk7W-l9ZRoSl1bELl7Ho130_provenance.
- befree-2016 importedOn "2016-02-19" NP1213017.RA7bAm7PfvoUbU2dfETigCeq5Jk7W-l9ZRoSl1bELl7Ho130_provenance.