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- source_evidence_literature type ECO_0000212 NP1244882.RAGtrOlPYJDlSJ5WG0gKmnEGQuancppG-NrhnZpDAlJFA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1244882.RAGtrOlPYJDlSJ5WG0gKmnEGQuancppG-NrhnZpDAlJFA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1244882.RAGtrOlPYJDlSJ5WG0gKmnEGQuancppG-NrhnZpDAlJFA130_provenance.
- NP1244882.RAGtrOlPYJDlSJ5WG0gKmnEGQuancppG-NrhnZpDAlJFA130_assertion description "[Direct KCNJ13 sequencing for an unrelated 33-year-old Saudi Arabian male with similar clinical findings but early-adult-onset rather than juvenile cataract revealed the same homozygous mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1244882.RAGtrOlPYJDlSJ5WG0gKmnEGQuancppG-NrhnZpDAlJFA130_provenance.
- NP1244882.RAGtrOlPYJDlSJ5WG0gKmnEGQuancppG-NrhnZpDAlJFA130_assertion evidence source_evidence_literature NP1244882.RAGtrOlPYJDlSJ5WG0gKmnEGQuancppG-NrhnZpDAlJFA130_provenance.
- NP1244882.RAGtrOlPYJDlSJ5WG0gKmnEGQuancppG-NrhnZpDAlJFA130_assertion SIO_000772 25475713 NP1244882.RAGtrOlPYJDlSJ5WG0gKmnEGQuancppG-NrhnZpDAlJFA130_provenance.
- NP1244882.RAGtrOlPYJDlSJ5WG0gKmnEGQuancppG-NrhnZpDAlJFA130_assertion wasDerivedFrom befree-2016 NP1244882.RAGtrOlPYJDlSJ5WG0gKmnEGQuancppG-NrhnZpDAlJFA130_provenance.
- NP1244882.RAGtrOlPYJDlSJ5WG0gKmnEGQuancppG-NrhnZpDAlJFA130_assertion wasGeneratedBy ECO_0000203 NP1244882.RAGtrOlPYJDlSJ5WG0gKmnEGQuancppG-NrhnZpDAlJFA130_provenance.
- befree-2016 importedOn "2016-02-19" NP1244882.RAGtrOlPYJDlSJ5WG0gKmnEGQuancppG-NrhnZpDAlJFA130_provenance.