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- source_evidence_literature type ECO_0000212 NP951932.RARNXr96U3NTspLppCpyTc_Hb7MrSZZyakAyXhP33esjo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP951932.RARNXr96U3NTspLppCpyTc_Hb7MrSZZyakAyXhP33esjo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP951932.RARNXr96U3NTspLppCpyTc_Hb7MrSZZyakAyXhP33esjo130_provenance.
- NP951932.RARNXr96U3NTspLppCpyTc_Hb7MrSZZyakAyXhP33esjo130_assertion description "[Mutations in the dedicator of cytokinesis 8 gene (DOCK8) cause a combined primary immunodeficiency syndrome that is characterized by elevated serum IgE levels, depressed IgM levels, eosinophilia, sinopulmonary infections, cutaneous viral infections, and lymphopenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP951932.RARNXr96U3NTspLppCpyTc_Hb7MrSZZyakAyXhP33esjo130_provenance.
- NP951932.RARNXr96U3NTspLppCpyTc_Hb7MrSZZyakAyXhP33esjo130_assertion evidence source_evidence_literature NP951932.RARNXr96U3NTspLppCpyTc_Hb7MrSZZyakAyXhP33esjo130_provenance.
- NP951932.RARNXr96U3NTspLppCpyTc_Hb7MrSZZyakAyXhP33esjo130_assertion SIO_000772 21931011 NP951932.RARNXr96U3NTspLppCpyTc_Hb7MrSZZyakAyXhP33esjo130_provenance.
- NP951932.RARNXr96U3NTspLppCpyTc_Hb7MrSZZyakAyXhP33esjo130_assertion wasDerivedFrom befree-20150227 NP951932.RARNXr96U3NTspLppCpyTc_Hb7MrSZZyakAyXhP33esjo130_provenance.
- NP951932.RARNXr96U3NTspLppCpyTc_Hb7MrSZZyakAyXhP33esjo130_assertion wasGeneratedBy ECO_0000203 NP951932.RARNXr96U3NTspLppCpyTc_Hb7MrSZZyakAyXhP33esjo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP951932.RARNXr96U3NTspLppCpyTc_Hb7MrSZZyakAyXhP33esjo130_provenance.