Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP632347.RACXGGvmo8xz3QYDV_O2mR5c3uwVuDtc2VLKQ9pMq4vR8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP632347.RACXGGvmo8xz3QYDV_O2mR5c3uwVuDtc2VLKQ9pMq4vR8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP632347.RACXGGvmo8xz3QYDV_O2mR5c3uwVuDtc2VLKQ9pMq4vR8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP632347.RACXGGvmo8xz3QYDV_O2mR5c3uwVuDtc2VLKQ9pMq4vR8130_provenance.
- befree-20150227 importedOn "2015-02-27" NP632347.RACXGGvmo8xz3QYDV_O2mR5c3uwVuDtc2VLKQ9pMq4vR8130_provenance.
- NP632347.RACXGGvmo8xz3QYDV_O2mR5c3uwVuDtc2VLKQ9pMq4vR8130_assertion wasGeneratedBy ECO_0000203 NP632347.RACXGGvmo8xz3QYDV_O2mR5c3uwVuDtc2VLKQ9pMq4vR8130_provenance.
- NP632347.RACXGGvmo8xz3QYDV_O2mR5c3uwVuDtc2VLKQ9pMq4vR8130_assertion wasDerivedFrom befree-20150227 NP632347.RACXGGvmo8xz3QYDV_O2mR5c3uwVuDtc2VLKQ9pMq4vR8130_provenance.
- NP632347.RACXGGvmo8xz3QYDV_O2mR5c3uwVuDtc2VLKQ9pMq4vR8130_assertion SIO_000772 22621957 NP632347.RACXGGvmo8xz3QYDV_O2mR5c3uwVuDtc2VLKQ9pMq4vR8130_provenance.
- NP632347.RACXGGvmo8xz3QYDV_O2mR5c3uwVuDtc2VLKQ9pMq4vR8130_assertion evidence source_evidence_literature NP632347.RACXGGvmo8xz3QYDV_O2mR5c3uwVuDtc2VLKQ9pMq4vR8130_provenance.
- NP632347.RACXGGvmo8xz3QYDV_O2mR5c3uwVuDtc2VLKQ9pMq4vR8130_assertion description "[Mutations in the SP110 gene result in infantile onset of the autosomal recessive primary immunodeficiency disease veno-occlusive disease with immunodeficiency syndrome (VODI), which is characterized by hypogammaglobulinemia, T-cell dysfunction, and a high frequency of hepatic veno-occlusive disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP632347.RACXGGvmo8xz3QYDV_O2mR5c3uwVuDtc2VLKQ9pMq4vR8130_provenance.