Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP476100.RAHHcwgz7IKkOmtshP1mW4YUGD6DIZ-5vFky4-pWGX7Gs130_assertion> ?p ?o ?g. }
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- NP476100.RAHHcwgz7IKkOmtshP1mW4YUGD6DIZ-5vFky4-pWGX7Gs130_assertion type Assertion NP476100.RAHHcwgz7IKkOmtshP1mW4YUGD6DIZ-5vFky4-pWGX7Gs130_head.
- NP476100.RAHHcwgz7IKkOmtshP1mW4YUGD6DIZ-5vFky4-pWGX7Gs130_assertion wasGeneratedBy ECO_0000203 NP476100.RAHHcwgz7IKkOmtshP1mW4YUGD6DIZ-5vFky4-pWGX7Gs130_provenance.
- NP476100.RAHHcwgz7IKkOmtshP1mW4YUGD6DIZ-5vFky4-pWGX7Gs130_assertion wasDerivedFrom befree-20150227 NP476100.RAHHcwgz7IKkOmtshP1mW4YUGD6DIZ-5vFky4-pWGX7Gs130_provenance.
- NP476100.RAHHcwgz7IKkOmtshP1mW4YUGD6DIZ-5vFky4-pWGX7Gs130_assertion SIO_000772 22621957 NP476100.RAHHcwgz7IKkOmtshP1mW4YUGD6DIZ-5vFky4-pWGX7Gs130_provenance.
- NP476100.RAHHcwgz7IKkOmtshP1mW4YUGD6DIZ-5vFky4-pWGX7Gs130_assertion evidence source_evidence_literature NP476100.RAHHcwgz7IKkOmtshP1mW4YUGD6DIZ-5vFky4-pWGX7Gs130_provenance.
- NP476100.RAHHcwgz7IKkOmtshP1mW4YUGD6DIZ-5vFky4-pWGX7Gs130_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." NP476100.RAHHcwgz7IKkOmtshP1mW4YUGD6DIZ-5vFky4-pWGX7Gs130_provenance.