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- source_evidence_literature type ECO_0000212 NP1247341.RAzee1C5x8F-TUgldYV1V9zSugdm4ytp6vgd9aZnnubGY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1247341.RAzee1C5x8F-TUgldYV1V9zSugdm4ytp6vgd9aZnnubGY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1247341.RAzee1C5x8F-TUgldYV1V9zSugdm4ytp6vgd9aZnnubGY130_provenance.
- NP1247341.RAzee1C5x8F-TUgldYV1V9zSugdm4ytp6vgd9aZnnubGY130_assertion description "[Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1247341.RAzee1C5x8F-TUgldYV1V9zSugdm4ytp6vgd9aZnnubGY130_provenance.
- NP1247341.RAzee1C5x8F-TUgldYV1V9zSugdm4ytp6vgd9aZnnubGY130_assertion evidence source_evidence_literature NP1247341.RAzee1C5x8F-TUgldYV1V9zSugdm4ytp6vgd9aZnnubGY130_provenance.
- NP1247341.RAzee1C5x8F-TUgldYV1V9zSugdm4ytp6vgd9aZnnubGY130_assertion SIO_000772 25500497 NP1247341.RAzee1C5x8F-TUgldYV1V9zSugdm4ytp6vgd9aZnnubGY130_provenance.
- NP1247341.RAzee1C5x8F-TUgldYV1V9zSugdm4ytp6vgd9aZnnubGY130_assertion wasDerivedFrom befree-2016 NP1247341.RAzee1C5x8F-TUgldYV1V9zSugdm4ytp6vgd9aZnnubGY130_provenance.
- NP1247341.RAzee1C5x8F-TUgldYV1V9zSugdm4ytp6vgd9aZnnubGY130_assertion wasGeneratedBy ECO_0000203 NP1247341.RAzee1C5x8F-TUgldYV1V9zSugdm4ytp6vgd9aZnnubGY130_provenance.
- befree-2016 importedOn "2016-02-19" NP1247341.RAzee1C5x8F-TUgldYV1V9zSugdm4ytp6vgd9aZnnubGY130_provenance.