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- source_evidence_literature type ECO_0000212 NP343196.RA7UcPUChyzqzF-XbWYR0uz-feCG7hbvExcleId89yGAQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP343196.RA7UcPUChyzqzF-XbWYR0uz-feCG7hbvExcleId89yGAQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP343196.RA7UcPUChyzqzF-XbWYR0uz-feCG7hbvExcleId89yGAQ130_provenance.
- NP343196.RA7UcPUChyzqzF-XbWYR0uz-feCG7hbvExcleId89yGAQ130_assertion description "[Our findings expand the molecular, cellular, and clinical spectrum of HPS-2 and call for an increased index of suspicion for this diagnosis among patients with features of albinism, bleeding, and neutropenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP343196.RA7UcPUChyzqzF-XbWYR0uz-feCG7hbvExcleId89yGAQ130_provenance.
- NP343196.RA7UcPUChyzqzF-XbWYR0uz-feCG7hbvExcleId89yGAQ130_assertion evidence source_evidence_literature NP343196.RA7UcPUChyzqzF-XbWYR0uz-feCG7hbvExcleId89yGAQ130_provenance.
- NP343196.RA7UcPUChyzqzF-XbWYR0uz-feCG7hbvExcleId89yGAQ130_assertion SIO_000772 11809908 NP343196.RA7UcPUChyzqzF-XbWYR0uz-feCG7hbvExcleId89yGAQ130_provenance.
- NP343196.RA7UcPUChyzqzF-XbWYR0uz-feCG7hbvExcleId89yGAQ130_assertion wasDerivedFrom befree-2016 NP343196.RA7UcPUChyzqzF-XbWYR0uz-feCG7hbvExcleId89yGAQ130_provenance.
- NP343196.RA7UcPUChyzqzF-XbWYR0uz-feCG7hbvExcleId89yGAQ130_assertion wasGeneratedBy ECO_0000203 NP343196.RA7UcPUChyzqzF-XbWYR0uz-feCG7hbvExcleId89yGAQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP343196.RA7UcPUChyzqzF-XbWYR0uz-feCG7hbvExcleId89yGAQ130_provenance.