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- source_evidence_literature type ECO_0000212 NP1029252.RAM9vCqdb-k-qCmdbQNfyOqfHL3AqW2YO4xKdd__ocJ2Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1029252.RAM9vCqdb-k-qCmdbQNfyOqfHL3AqW2YO4xKdd__ocJ2Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1029252.RAM9vCqdb-k-qCmdbQNfyOqfHL3AqW2YO4xKdd__ocJ2Q130_provenance.
- befree-2016 importedOn "2016-02-19" NP1029252.RAM9vCqdb-k-qCmdbQNfyOqfHL3AqW2YO4xKdd__ocJ2Q130_provenance.
- NP1029252.RAM9vCqdb-k-qCmdbQNfyOqfHL3AqW2YO4xKdd__ocJ2Q130_assertion wasGeneratedBy ECO_0000203 NP1029252.RAM9vCqdb-k-qCmdbQNfyOqfHL3AqW2YO4xKdd__ocJ2Q130_provenance.
- NP1029252.RAM9vCqdb-k-qCmdbQNfyOqfHL3AqW2YO4xKdd__ocJ2Q130_assertion wasDerivedFrom befree-2016 NP1029252.RAM9vCqdb-k-qCmdbQNfyOqfHL3AqW2YO4xKdd__ocJ2Q130_provenance.
- NP1029252.RAM9vCqdb-k-qCmdbQNfyOqfHL3AqW2YO4xKdd__ocJ2Q130_assertion SIO_000772 23160464 NP1029252.RAM9vCqdb-k-qCmdbQNfyOqfHL3AqW2YO4xKdd__ocJ2Q130_provenance.
- NP1029252.RAM9vCqdb-k-qCmdbQNfyOqfHL3AqW2YO4xKdd__ocJ2Q130_assertion evidence source_evidence_literature NP1029252.RAM9vCqdb-k-qCmdbQNfyOqfHL3AqW2YO4xKdd__ocJ2Q130_provenance.
- NP1029252.RAM9vCqdb-k-qCmdbQNfyOqfHL3AqW2YO4xKdd__ocJ2Q130_assertion description "[In a cohort of HLH patients with genetic abnormalities expected to result in the complete absence of perforin, Rab27a, or syntaxin-11, we found that disease severity as determined by age at HLH onset differed significantly, with a severity gradient from perforin (early onset) > Rab27a > syntaxin-11 (late onset).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1029252.RAM9vCqdb-k-qCmdbQNfyOqfHL3AqW2YO4xKdd__ocJ2Q130_provenance.