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- source_evidence_literature type ECO_0000212 NP541188.RAfRzIsUtAVr5zdYAxrBzksG8fXB3A2WjT-n9i84v0vRg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP541188.RAfRzIsUtAVr5zdYAxrBzksG8fXB3A2WjT-n9i84v0vRg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP541188.RAfRzIsUtAVr5zdYAxrBzksG8fXB3A2WjT-n9i84v0vRg130_provenance.
- NP541188.RAfRzIsUtAVr5zdYAxrBzksG8fXB3A2WjT-n9i84v0vRg130_assertion description "[Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP541188.RAfRzIsUtAVr5zdYAxrBzksG8fXB3A2WjT-n9i84v0vRg130_provenance.
- NP541188.RAfRzIsUtAVr5zdYAxrBzksG8fXB3A2WjT-n9i84v0vRg130_assertion evidence source_evidence_literature NP541188.RAfRzIsUtAVr5zdYAxrBzksG8fXB3A2WjT-n9i84v0vRg130_provenance.
- NP541188.RAfRzIsUtAVr5zdYAxrBzksG8fXB3A2WjT-n9i84v0vRg130_assertion SIO_000772 19508969 NP541188.RAfRzIsUtAVr5zdYAxrBzksG8fXB3A2WjT-n9i84v0vRg130_provenance.
- NP541188.RAfRzIsUtAVr5zdYAxrBzksG8fXB3A2WjT-n9i84v0vRg130_assertion wasDerivedFrom befree-20140225 NP541188.RAfRzIsUtAVr5zdYAxrBzksG8fXB3A2WjT-n9i84v0vRg130_provenance.
- NP541188.RAfRzIsUtAVr5zdYAxrBzksG8fXB3A2WjT-n9i84v0vRg130_assertion wasGeneratedBy ECO_0000203 NP541188.RAfRzIsUtAVr5zdYAxrBzksG8fXB3A2WjT-n9i84v0vRg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP541188.RAfRzIsUtAVr5zdYAxrBzksG8fXB3A2WjT-n9i84v0vRg130_provenance.