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- source_evidence_literature type ECO_0000212 NP871754.RAbtIVIf7AHlm403iRt8GqqB1Jr-XojX6Z8fwW6sydLLw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP871754.RAbtIVIf7AHlm403iRt8GqqB1Jr-XojX6Z8fwW6sydLLw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP871754.RAbtIVIf7AHlm403iRt8GqqB1Jr-XojX6Z8fwW6sydLLw130_provenance.
- NP871754.RAbtIVIf7AHlm403iRt8GqqB1Jr-XojX6Z8fwW6sydLLw130_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." NP871754.RAbtIVIf7AHlm403iRt8GqqB1Jr-XojX6Z8fwW6sydLLw130_provenance.
- NP871754.RAbtIVIf7AHlm403iRt8GqqB1Jr-XojX6Z8fwW6sydLLw130_assertion evidence source_evidence_literature NP871754.RAbtIVIf7AHlm403iRt8GqqB1Jr-XojX6Z8fwW6sydLLw130_provenance.
- NP871754.RAbtIVIf7AHlm403iRt8GqqB1Jr-XojX6Z8fwW6sydLLw130_assertion SIO_000772 21314004 NP871754.RAbtIVIf7AHlm403iRt8GqqB1Jr-XojX6Z8fwW6sydLLw130_provenance.
- NP871754.RAbtIVIf7AHlm403iRt8GqqB1Jr-XojX6Z8fwW6sydLLw130_assertion wasDerivedFrom befree-2016 NP871754.RAbtIVIf7AHlm403iRt8GqqB1Jr-XojX6Z8fwW6sydLLw130_provenance.
- NP871754.RAbtIVIf7AHlm403iRt8GqqB1Jr-XojX6Z8fwW6sydLLw130_assertion wasGeneratedBy ECO_0000203 NP871754.RAbtIVIf7AHlm403iRt8GqqB1Jr-XojX6Z8fwW6sydLLw130_provenance.
- befree-2016 importedOn "2016-02-19" NP871754.RAbtIVIf7AHlm403iRt8GqqB1Jr-XojX6Z8fwW6sydLLw130_provenance.