Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP662854.RAjRr_t1EkuTGHN5-rpZA8-9Th67bA0boWCBG0S3KLLGU130_assertion> ?p ?o ?g. }
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- NP662854.RAjRr_t1EkuTGHN5-rpZA8-9Th67bA0boWCBG0S3KLLGU130_assertion type Assertion NP662854.RAjRr_t1EkuTGHN5-rpZA8-9Th67bA0boWCBG0S3KLLGU130_head.
- NP662854.RAjRr_t1EkuTGHN5-rpZA8-9Th67bA0boWCBG0S3KLLGU130_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." NP662854.RAjRr_t1EkuTGHN5-rpZA8-9Th67bA0boWCBG0S3KLLGU130_provenance.
- NP662854.RAjRr_t1EkuTGHN5-rpZA8-9Th67bA0boWCBG0S3KLLGU130_assertion evidence source_evidence_literature NP662854.RAjRr_t1EkuTGHN5-rpZA8-9Th67bA0boWCBG0S3KLLGU130_provenance.
- NP662854.RAjRr_t1EkuTGHN5-rpZA8-9Th67bA0boWCBG0S3KLLGU130_assertion SIO_000772 21314004 NP662854.RAjRr_t1EkuTGHN5-rpZA8-9Th67bA0boWCBG0S3KLLGU130_provenance.
- NP662854.RAjRr_t1EkuTGHN5-rpZA8-9Th67bA0boWCBG0S3KLLGU130_assertion wasDerivedFrom befree-20150227 NP662854.RAjRr_t1EkuTGHN5-rpZA8-9Th67bA0boWCBG0S3KLLGU130_provenance.
- NP662854.RAjRr_t1EkuTGHN5-rpZA8-9Th67bA0boWCBG0S3KLLGU130_assertion wasGeneratedBy ECO_0000203 NP662854.RAjRr_t1EkuTGHN5-rpZA8-9Th67bA0boWCBG0S3KLLGU130_provenance.