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- source_evidence_literature type ECO_0000212 NP1011455.RAgfhzBAzBnQpjUb_LAH0PeuzfFczrw049-45fp6POC6I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1011455.RAgfhzBAzBnQpjUb_LAH0PeuzfFczrw049-45fp6POC6I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1011455.RAgfhzBAzBnQpjUb_LAH0PeuzfFczrw049-45fp6POC6I130_provenance.
- NP1011455.RAgfhzBAzBnQpjUb_LAH0PeuzfFczrw049-45fp6POC6I130_assertion description "[In conclusion, this study shows that the KTS splice site mutation is not specific for Frasier syndrome, but that it can also be found in DDS and in a normal female (XX) with FSGS, a woman who achieved normal pregnancy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1011455.RAgfhzBAzBnQpjUb_LAH0PeuzfFczrw049-45fp6POC6I130_provenance.
- NP1011455.RAgfhzBAzBnQpjUb_LAH0PeuzfFczrw049-45fp6POC6I130_assertion evidence source_evidence_literature NP1011455.RAgfhzBAzBnQpjUb_LAH0PeuzfFczrw049-45fp6POC6I130_provenance.
- NP1011455.RAgfhzBAzBnQpjUb_LAH0PeuzfFczrw049-45fp6POC6I130_assertion SIO_000772 10505700 NP1011455.RAgfhzBAzBnQpjUb_LAH0PeuzfFczrw049-45fp6POC6I130_provenance.
- NP1011455.RAgfhzBAzBnQpjUb_LAH0PeuzfFczrw049-45fp6POC6I130_assertion wasDerivedFrom befree-20150227 NP1011455.RAgfhzBAzBnQpjUb_LAH0PeuzfFczrw049-45fp6POC6I130_provenance.
- NP1011455.RAgfhzBAzBnQpjUb_LAH0PeuzfFczrw049-45fp6POC6I130_assertion wasGeneratedBy ECO_0000203 NP1011455.RAgfhzBAzBnQpjUb_LAH0PeuzfFczrw049-45fp6POC6I130_provenance.
- befree-20150227 importedOn "2015-02-27" NP1011455.RAgfhzBAzBnQpjUb_LAH0PeuzfFczrw049-45fp6POC6I130_provenance.