Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP294012.RAKCkGhTA9rg6AZ3nt_ssGt28aSPgRednoVkm9n25OVTY130_assertion> ?p ?o ?g. }
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- NP294012.RAKCkGhTA9rg6AZ3nt_ssGt28aSPgRednoVkm9n25OVTY130_assertion type Assertion NP294012.RAKCkGhTA9rg6AZ3nt_ssGt28aSPgRednoVkm9n25OVTY130_head.
- NP294012.RAKCkGhTA9rg6AZ3nt_ssGt28aSPgRednoVkm9n25OVTY130_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." NP294012.RAKCkGhTA9rg6AZ3nt_ssGt28aSPgRednoVkm9n25OVTY130_provenance.
- NP294012.RAKCkGhTA9rg6AZ3nt_ssGt28aSPgRednoVkm9n25OVTY130_assertion evidence source_evidence_literature NP294012.RAKCkGhTA9rg6AZ3nt_ssGt28aSPgRednoVkm9n25OVTY130_provenance.
- NP294012.RAKCkGhTA9rg6AZ3nt_ssGt28aSPgRednoVkm9n25OVTY130_assertion SIO_000772 10971344 NP294012.RAKCkGhTA9rg6AZ3nt_ssGt28aSPgRednoVkm9n25OVTY130_provenance.
- NP294012.RAKCkGhTA9rg6AZ3nt_ssGt28aSPgRednoVkm9n25OVTY130_assertion wasDerivedFrom befree-2016 NP294012.RAKCkGhTA9rg6AZ3nt_ssGt28aSPgRednoVkm9n25OVTY130_provenance.
- NP294012.RAKCkGhTA9rg6AZ3nt_ssGt28aSPgRednoVkm9n25OVTY130_assertion wasGeneratedBy ECO_0000203 NP294012.RAKCkGhTA9rg6AZ3nt_ssGt28aSPgRednoVkm9n25OVTY130_provenance.