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- source_evidence_literature type ECO_0000212 NP601969.RAWvLLraOIMiZgBmeYO0P8n0nItVIb9yN7_W6B5-KzjIM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP601969.RAWvLLraOIMiZgBmeYO0P8n0nItVIb9yN7_W6B5-KzjIM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP601969.RAWvLLraOIMiZgBmeYO0P8n0nItVIb9yN7_W6B5-KzjIM130_provenance.
- NP601969.RAWvLLraOIMiZgBmeYO0P8n0nItVIb9yN7_W6B5-KzjIM130_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." NP601969.RAWvLLraOIMiZgBmeYO0P8n0nItVIb9yN7_W6B5-KzjIM130_provenance.
- NP601969.RAWvLLraOIMiZgBmeYO0P8n0nItVIb9yN7_W6B5-KzjIM130_assertion evidence source_evidence_literature NP601969.RAWvLLraOIMiZgBmeYO0P8n0nItVIb9yN7_W6B5-KzjIM130_provenance.
- NP601969.RAWvLLraOIMiZgBmeYO0P8n0nItVIb9yN7_W6B5-KzjIM130_assertion SIO_000772 21314004 NP601969.RAWvLLraOIMiZgBmeYO0P8n0nItVIb9yN7_W6B5-KzjIM130_provenance.
- NP601969.RAWvLLraOIMiZgBmeYO0P8n0nItVIb9yN7_W6B5-KzjIM130_assertion wasDerivedFrom befree-20140225 NP601969.RAWvLLraOIMiZgBmeYO0P8n0nItVIb9yN7_W6B5-KzjIM130_provenance.
- NP601969.RAWvLLraOIMiZgBmeYO0P8n0nItVIb9yN7_W6B5-KzjIM130_assertion wasGeneratedBy ECO_0000203 NP601969.RAWvLLraOIMiZgBmeYO0P8n0nItVIb9yN7_W6B5-KzjIM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP601969.RAWvLLraOIMiZgBmeYO0P8n0nItVIb9yN7_W6B5-KzjIM130_provenance.