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- source_evidence_literature type ECO_0000212 NP345685.RAFme14xH6Jjyda42arW3B4umz2sTRhNGoBjR2uNOKpNk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP345685.RAFme14xH6Jjyda42arW3B4umz2sTRhNGoBjR2uNOKpNk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP345685.RAFme14xH6Jjyda42arW3B4umz2sTRhNGoBjR2uNOKpNk130_provenance.
- NP345685.RAFme14xH6Jjyda42arW3B4umz2sTRhNGoBjR2uNOKpNk130_assertion description "[Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP345685.RAFme14xH6Jjyda42arW3B4umz2sTRhNGoBjR2uNOKpNk130_provenance.
- NP345685.RAFme14xH6Jjyda42arW3B4umz2sTRhNGoBjR2uNOKpNk130_assertion evidence source_evidence_literature NP345685.RAFme14xH6Jjyda42arW3B4umz2sTRhNGoBjR2uNOKpNk130_provenance.
- NP345685.RAFme14xH6Jjyda42arW3B4umz2sTRhNGoBjR2uNOKpNk130_assertion SIO_000772 21958693 NP345685.RAFme14xH6Jjyda42arW3B4umz2sTRhNGoBjR2uNOKpNk130_provenance.
- NP345685.RAFme14xH6Jjyda42arW3B4umz2sTRhNGoBjR2uNOKpNk130_assertion wasDerivedFrom befree-20150227 NP345685.RAFme14xH6Jjyda42arW3B4umz2sTRhNGoBjR2uNOKpNk130_provenance.
- NP345685.RAFme14xH6Jjyda42arW3B4umz2sTRhNGoBjR2uNOKpNk130_assertion wasGeneratedBy ECO_0000203 NP345685.RAFme14xH6Jjyda42arW3B4umz2sTRhNGoBjR2uNOKpNk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP345685.RAFme14xH6Jjyda42arW3B4umz2sTRhNGoBjR2uNOKpNk130_provenance.