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- source_evidence_literature type ECO_0000212 NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_provenance.
- befree-2016 importedOn "2016-02-19" NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_provenance.
- NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_assertion wasGeneratedBy ECO_0000203 NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_provenance.
- NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_assertion wasDerivedFrom befree-2016 NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_provenance.
- NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_assertion SIO_000772 15001636 NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_provenance.
- NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_assertion evidence source_evidence_literature NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_provenance.
- NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_assertion description "[In this report, we found a novel missense mutation in the HNF-1 beta gene in a patient with neonatal cholestasis and liver dysfunction together with the common features of MODY5.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_provenance.