Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_assertion> ?p ?o ?g. }
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- NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_assertion type Assertion NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_head.
- NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_assertion description "[Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_provenance.
- NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_assertion evidence source_evidence_literature NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_provenance.
- NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_assertion SIO_000772 10971344 NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_provenance.
- NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_assertion wasDerivedFrom befree-20140225 NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_provenance.
- NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_assertion wasGeneratedBy ECO_0000203 NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_provenance.