Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP388960.RAUezYJ43VhkcIPM9KATLchqfZ9bHzk75gxnlMW0BK3ts130_assertion> ?p ?o ?g. }
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- NP388960.RAUezYJ43VhkcIPM9KATLchqfZ9bHzk75gxnlMW0BK3ts130_assertion type Assertion NP388960.RAUezYJ43VhkcIPM9KATLchqfZ9bHzk75gxnlMW0BK3ts130_head.
- 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.