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- source_evidence_literature type ECO_0000212 NP910618.RAixuftrLCttYPmmxrjnU8kEkyAtzTZw-zY4CNPU2X-AA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP910618.RAixuftrLCttYPmmxrjnU8kEkyAtzTZw-zY4CNPU2X-AA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP910618.RAixuftrLCttYPmmxrjnU8kEkyAtzTZw-zY4CNPU2X-AA130_provenance.
- NP910618.RAixuftrLCttYPmmxrjnU8kEkyAtzTZw-zY4CNPU2X-AA130_assertion description "[Mutations in the transcription factor gene SOX18 cause vascular, lymphatic and hair follicle defects in humans with dominant and recessive forms of hypotrichosis-lymphedema-telangiectasia (HLT) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP910618.RAixuftrLCttYPmmxrjnU8kEkyAtzTZw-zY4CNPU2X-AA130_provenance.
- NP910618.RAixuftrLCttYPmmxrjnU8kEkyAtzTZw-zY4CNPU2X-AA130_assertion evidence source_evidence_literature NP910618.RAixuftrLCttYPmmxrjnU8kEkyAtzTZw-zY4CNPU2X-AA130_provenance.
- NP910618.RAixuftrLCttYPmmxrjnU8kEkyAtzTZw-zY4CNPU2X-AA130_assertion SIO_000772 19429912 NP910618.RAixuftrLCttYPmmxrjnU8kEkyAtzTZw-zY4CNPU2X-AA130_provenance.
- NP910618.RAixuftrLCttYPmmxrjnU8kEkyAtzTZw-zY4CNPU2X-AA130_assertion wasDerivedFrom befree-20150227 NP910618.RAixuftrLCttYPmmxrjnU8kEkyAtzTZw-zY4CNPU2X-AA130_provenance.
- NP910618.RAixuftrLCttYPmmxrjnU8kEkyAtzTZw-zY4CNPU2X-AA130_assertion wasGeneratedBy ECO_0000203 NP910618.RAixuftrLCttYPmmxrjnU8kEkyAtzTZw-zY4CNPU2X-AA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP910618.RAixuftrLCttYPmmxrjnU8kEkyAtzTZw-zY4CNPU2X-AA130_provenance.