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- source_evidence_literature type ECO_0000212 NP597288.RALJWp_78voDC1NP2plAukDJ6HucK8Qla3fnT5Ux5WVDs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP597288.RALJWp_78voDC1NP2plAukDJ6HucK8Qla3fnT5Ux5WVDs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP597288.RALJWp_78voDC1NP2plAukDJ6HucK8Qla3fnT5Ux5WVDs130_provenance.
- NP597288.RALJWp_78voDC1NP2plAukDJ6HucK8Qla3fnT5Ux5WVDs130_assertion description "[NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP597288.RALJWp_78voDC1NP2plAukDJ6HucK8Qla3fnT5Ux5WVDs130_provenance.
- NP597288.RALJWp_78voDC1NP2plAukDJ6HucK8Qla3fnT5Ux5WVDs130_assertion evidence source_evidence_literature NP597288.RALJWp_78voDC1NP2plAukDJ6HucK8Qla3fnT5Ux5WVDs130_provenance.
- NP597288.RALJWp_78voDC1NP2plAukDJ6HucK8Qla3fnT5Ux5WVDs130_assertion SIO_000772 23010472 NP597288.RALJWp_78voDC1NP2plAukDJ6HucK8Qla3fnT5Ux5WVDs130_provenance.
- NP597288.RALJWp_78voDC1NP2plAukDJ6HucK8Qla3fnT5Ux5WVDs130_assertion wasDerivedFrom befree-20150227 NP597288.RALJWp_78voDC1NP2plAukDJ6HucK8Qla3fnT5Ux5WVDs130_provenance.
- NP597288.RALJWp_78voDC1NP2plAukDJ6HucK8Qla3fnT5Ux5WVDs130_assertion wasGeneratedBy ECO_0000203 NP597288.RALJWp_78voDC1NP2plAukDJ6HucK8Qla3fnT5Ux5WVDs130_provenance.
- befree-20150227 importedOn "2015-02-27" NP597288.RALJWp_78voDC1NP2plAukDJ6HucK8Qla3fnT5Ux5WVDs130_provenance.