Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP891109.RAFBbfRgn5rLZJR7HCMUFGQfNjVWWyk3xSlrCVMMLW640#assertion> ?p ?o ?g. }
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- assertion description "[Griscelli syndrome type 2 is a rare autosomal recessive primary immunodeficiency disease caused by a mutation in the RAB27A gene and characterized by oculocutaneous hypopigmentation and variable cellular immunodeficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 21314004 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.