Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP265414.RAfxxboadNBOdqixbNshy0oQW-uqVCwKmHozrsCe9bDZ0130_assertion> ?p ?o ?g. }
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- NP265414.RAfxxboadNBOdqixbNshy0oQW-uqVCwKmHozrsCe9bDZ0130_assertion type Assertion NP265414.RAfxxboadNBOdqixbNshy0oQW-uqVCwKmHozrsCe9bDZ0130_head.
- NP265414.RAfxxboadNBOdqixbNshy0oQW-uqVCwKmHozrsCe9bDZ0130_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." NP265414.RAfxxboadNBOdqixbNshy0oQW-uqVCwKmHozrsCe9bDZ0130_provenance.
- NP265414.RAfxxboadNBOdqixbNshy0oQW-uqVCwKmHozrsCe9bDZ0130_assertion evidence source_evidence_literature NP265414.RAfxxboadNBOdqixbNshy0oQW-uqVCwKmHozrsCe9bDZ0130_provenance.
- NP265414.RAfxxboadNBOdqixbNshy0oQW-uqVCwKmHozrsCe9bDZ0130_assertion SIO_000772 21314004 NP265414.RAfxxboadNBOdqixbNshy0oQW-uqVCwKmHozrsCe9bDZ0130_provenance.
- NP265414.RAfxxboadNBOdqixbNshy0oQW-uqVCwKmHozrsCe9bDZ0130_assertion wasDerivedFrom befree-20140225 NP265414.RAfxxboadNBOdqixbNshy0oQW-uqVCwKmHozrsCe9bDZ0130_provenance.
- NP265414.RAfxxboadNBOdqixbNshy0oQW-uqVCwKmHozrsCe9bDZ0130_assertion wasGeneratedBy ECO_0000203 NP265414.RAfxxboadNBOdqixbNshy0oQW-uqVCwKmHozrsCe9bDZ0130_provenance.