Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP388960.RAUezYJ43VhkcIPM9KATLchqfZ9bHzk75gxnlMW0BK3ts130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP388960.RAUezYJ43VhkcIPM9KATLchqfZ9bHzk75gxnlMW0BK3ts130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP388960.RAUezYJ43VhkcIPM9KATLchqfZ9bHzk75gxnlMW0BK3ts130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP388960.RAUezYJ43VhkcIPM9KATLchqfZ9bHzk75gxnlMW0BK3ts130_provenance.
- NP388960.RAUezYJ43VhkcIPM9KATLchqfZ9bHzk75gxnlMW0BK3ts130_assertion description "[Clinically, our HPS-4 patients exhibited iris transillumination, variable hair and skin pigmentation, absent platelet dense bodies, and occasional pulmonary fibrosis and granulomatous colitis, a severe phenotype similar to that of patients with HPS-1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP388960.RAUezYJ43VhkcIPM9KATLchqfZ9bHzk75gxnlMW0BK3ts130_provenance.
- NP388960.RAUezYJ43VhkcIPM9KATLchqfZ9bHzk75gxnlMW0BK3ts130_assertion evidence source_evidence_literature NP388960.RAUezYJ43VhkcIPM9KATLchqfZ9bHzk75gxnlMW0BK3ts130_provenance.
- NP388960.RAUezYJ43VhkcIPM9KATLchqfZ9bHzk75gxnlMW0BK3ts130_assertion SIO_000772 12664304 NP388960.RAUezYJ43VhkcIPM9KATLchqfZ9bHzk75gxnlMW0BK3ts130_provenance.
- NP388960.RAUezYJ43VhkcIPM9KATLchqfZ9bHzk75gxnlMW0BK3ts130_assertion wasDerivedFrom befree-2016 NP388960.RAUezYJ43VhkcIPM9KATLchqfZ9bHzk75gxnlMW0BK3ts130_provenance.
- NP388960.RAUezYJ43VhkcIPM9KATLchqfZ9bHzk75gxnlMW0BK3ts130_assertion wasGeneratedBy ECO_0000203 NP388960.RAUezYJ43VhkcIPM9KATLchqfZ9bHzk75gxnlMW0BK3ts130_provenance.
- befree-2016 importedOn "2016-02-19" NP388960.RAUezYJ43VhkcIPM9KATLchqfZ9bHzk75gxnlMW0BK3ts130_provenance.