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- source_evidence_literature type ECO_0000212 NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_provenance.
- NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_assertion description "[We identified a novel Cys521Tyr progranulin gene variant in a PNFA family that potentially disrupts disulphide bridging causing protein misfolding.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_provenance.
- NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_assertion evidence source_evidence_literature NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_provenance.
- NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_assertion SIO_000772 19020205 NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_provenance.
- NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_assertion wasDerivedFrom befree-2016 NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_provenance.
- NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_assertion wasGeneratedBy ECO_0000203 NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_provenance.
- befree-2016 importedOn "2016-02-19" NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_provenance.