Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_provenance.
- NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_assertion wasGeneratedBy ECO_0000203 NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_provenance.
- NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_assertion wasDerivedFrom befree-20140225 NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_provenance.
- NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_assertion SIO_000772 22621957 NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_provenance.
- NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_assertion evidence source_evidence_literature NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_provenance.
- NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_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." NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_provenance.