Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP871753.RA6UD3HqlYh-zFL8lszmPZLb1LzQ6HRXT78NjrFaTHd4k130_assertion> ?p ?o ?g. }
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- NP871753.RA6UD3HqlYh-zFL8lszmPZLb1LzQ6HRXT78NjrFaTHd4k130_assertion type Assertion NP871753.RA6UD3HqlYh-zFL8lszmPZLb1LzQ6HRXT78NjrFaTHd4k130_head.
- NP871753.RA6UD3HqlYh-zFL8lszmPZLb1LzQ6HRXT78NjrFaTHd4k130_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." NP871753.RA6UD3HqlYh-zFL8lszmPZLb1LzQ6HRXT78NjrFaTHd4k130_provenance.
- NP871753.RA6UD3HqlYh-zFL8lszmPZLb1LzQ6HRXT78NjrFaTHd4k130_assertion evidence source_evidence_literature NP871753.RA6UD3HqlYh-zFL8lszmPZLb1LzQ6HRXT78NjrFaTHd4k130_provenance.
- NP871753.RA6UD3HqlYh-zFL8lszmPZLb1LzQ6HRXT78NjrFaTHd4k130_assertion SIO_000772 21314004 NP871753.RA6UD3HqlYh-zFL8lszmPZLb1LzQ6HRXT78NjrFaTHd4k130_provenance.
- NP871753.RA6UD3HqlYh-zFL8lszmPZLb1LzQ6HRXT78NjrFaTHd4k130_assertion wasDerivedFrom befree-2016 NP871753.RA6UD3HqlYh-zFL8lszmPZLb1LzQ6HRXT78NjrFaTHd4k130_provenance.
- NP871753.RA6UD3HqlYh-zFL8lszmPZLb1LzQ6HRXT78NjrFaTHd4k130_assertion wasGeneratedBy ECO_0000203 NP871753.RA6UD3HqlYh-zFL8lszmPZLb1LzQ6HRXT78NjrFaTHd4k130_provenance.