Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP718957.RAuoYsPzJKwgfSOffHchlckMeyI8wdDcAwixoDFjZUyVI130_assertion> ?p ?o ?g. }
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- NP718957.RAuoYsPzJKwgfSOffHchlckMeyI8wdDcAwixoDFjZUyVI130_assertion type Assertion NP718957.RAuoYsPzJKwgfSOffHchlckMeyI8wdDcAwixoDFjZUyVI130_head.
- NP718957.RAuoYsPzJKwgfSOffHchlckMeyI8wdDcAwixoDFjZUyVI130_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." NP718957.RAuoYsPzJKwgfSOffHchlckMeyI8wdDcAwixoDFjZUyVI130_provenance.
- NP718957.RAuoYsPzJKwgfSOffHchlckMeyI8wdDcAwixoDFjZUyVI130_assertion evidence source_evidence_literature NP718957.RAuoYsPzJKwgfSOffHchlckMeyI8wdDcAwixoDFjZUyVI130_provenance.
- NP718957.RAuoYsPzJKwgfSOffHchlckMeyI8wdDcAwixoDFjZUyVI130_assertion SIO_000772 12664304 NP718957.RAuoYsPzJKwgfSOffHchlckMeyI8wdDcAwixoDFjZUyVI130_provenance.
- NP718957.RAuoYsPzJKwgfSOffHchlckMeyI8wdDcAwixoDFjZUyVI130_assertion wasDerivedFrom befree-20140225 NP718957.RAuoYsPzJKwgfSOffHchlckMeyI8wdDcAwixoDFjZUyVI130_provenance.
- NP718957.RAuoYsPzJKwgfSOffHchlckMeyI8wdDcAwixoDFjZUyVI130_assertion wasGeneratedBy ECO_0000203 NP718957.RAuoYsPzJKwgfSOffHchlckMeyI8wdDcAwixoDFjZUyVI130_provenance.