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- source_evidence_literature type ECO_0000212 NP662854.RAjRr_t1EkuTGHN5-rpZA8-9Th67bA0boWCBG0S3KLLGU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP662854.RAjRr_t1EkuTGHN5-rpZA8-9Th67bA0boWCBG0S3KLLGU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP662854.RAjRr_t1EkuTGHN5-rpZA8-9Th67bA0boWCBG0S3KLLGU130_provenance.
- 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.
- befree-20150227 importedOn "2015-02-27" NP662854.RAjRr_t1EkuTGHN5-rpZA8-9Th67bA0boWCBG0S3KLLGU130_provenance.