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- source_evidence_literature type ECO_0000212 NP609340.RAFR6QICZUHu4hIOypYWCOGzfmBDHBiuUpJ7eGnrnnFhk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP609340.RAFR6QICZUHu4hIOypYWCOGzfmBDHBiuUpJ7eGnrnnFhk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP609340.RAFR6QICZUHu4hIOypYWCOGzfmBDHBiuUpJ7eGnrnnFhk130_provenance.
- NP609340.RAFR6QICZUHu4hIOypYWCOGzfmBDHBiuUpJ7eGnrnnFhk130_assertion description "[The patient's findings of coloboma and renal dysfunction suggested that she had RCS, and genetic analysis revealed a PAX2 heterozygous mutation in exon 2 (c.76dup, p.Val26Glyfsx27) without any mutations of COL4A3, COL4A4, and COL4A5, which are responsible for autosomal and X-linked Alport syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP609340.RAFR6QICZUHu4hIOypYWCOGzfmBDHBiuUpJ7eGnrnnFhk130_provenance.
- NP609340.RAFR6QICZUHu4hIOypYWCOGzfmBDHBiuUpJ7eGnrnnFhk130_assertion evidence source_evidence_literature NP609340.RAFR6QICZUHu4hIOypYWCOGzfmBDHBiuUpJ7eGnrnnFhk130_provenance.
- NP609340.RAFR6QICZUHu4hIOypYWCOGzfmBDHBiuUpJ7eGnrnnFhk130_assertion SIO_000772 22350371 NP609340.RAFR6QICZUHu4hIOypYWCOGzfmBDHBiuUpJ7eGnrnnFhk130_provenance.
- NP609340.RAFR6QICZUHu4hIOypYWCOGzfmBDHBiuUpJ7eGnrnnFhk130_assertion wasDerivedFrom befree-20150227 NP609340.RAFR6QICZUHu4hIOypYWCOGzfmBDHBiuUpJ7eGnrnnFhk130_provenance.
- NP609340.RAFR6QICZUHu4hIOypYWCOGzfmBDHBiuUpJ7eGnrnnFhk130_assertion wasGeneratedBy ECO_0000203 NP609340.RAFR6QICZUHu4hIOypYWCOGzfmBDHBiuUpJ7eGnrnnFhk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP609340.RAFR6QICZUHu4hIOypYWCOGzfmBDHBiuUpJ7eGnrnnFhk130_provenance.