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- source_evidence_literature type ECO_0000212 NP457101.RA3joTffUkUcs4fBomfmwgetkJgiiV5e7ozXdWmf5FMAo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP457101.RA3joTffUkUcs4fBomfmwgetkJgiiV5e7ozXdWmf5FMAo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP457101.RA3joTffUkUcs4fBomfmwgetkJgiiV5e7ozXdWmf5FMAo130_provenance.
- NP457101.RA3joTffUkUcs4fBomfmwgetkJgiiV5e7ozXdWmf5FMAo130_assertion description "[The disease marble brain syndrome (MBS), known also as carbonic anhydrase II deficiency syndrome (CADS), can manifest in carriers of point mutations in the human carbonic anhydrase II (HCA II) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP457101.RA3joTffUkUcs4fBomfmwgetkJgiiV5e7ozXdWmf5FMAo130_provenance.
- NP457101.RA3joTffUkUcs4fBomfmwgetkJgiiV5e7ozXdWmf5FMAo130_assertion evidence source_evidence_literature NP457101.RA3joTffUkUcs4fBomfmwgetkJgiiV5e7ozXdWmf5FMAo130_provenance.
- NP457101.RA3joTffUkUcs4fBomfmwgetkJgiiV5e7ozXdWmf5FMAo130_assertion SIO_000772 15327960 NP457101.RA3joTffUkUcs4fBomfmwgetkJgiiV5e7ozXdWmf5FMAo130_provenance.
- NP457101.RA3joTffUkUcs4fBomfmwgetkJgiiV5e7ozXdWmf5FMAo130_assertion wasDerivedFrom befree-2016 NP457101.RA3joTffUkUcs4fBomfmwgetkJgiiV5e7ozXdWmf5FMAo130_provenance.
- NP457101.RA3joTffUkUcs4fBomfmwgetkJgiiV5e7ozXdWmf5FMAo130_assertion wasGeneratedBy ECO_0000203 NP457101.RA3joTffUkUcs4fBomfmwgetkJgiiV5e7ozXdWmf5FMAo130_provenance.
- befree-2016 importedOn "2016-02-19" NP457101.RA3joTffUkUcs4fBomfmwgetkJgiiV5e7ozXdWmf5FMAo130_provenance.