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- source_evidence_literature type ECO_0000212 NP790025.RAbJ7klXaADUL078bbe1o2GcPTqdhWBNpuuBlbT2MUog4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP790025.RAbJ7klXaADUL078bbe1o2GcPTqdhWBNpuuBlbT2MUog4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP790025.RAbJ7klXaADUL078bbe1o2GcPTqdhWBNpuuBlbT2MUog4130_provenance.
- NP790025.RAbJ7klXaADUL078bbe1o2GcPTqdhWBNpuuBlbT2MUog4130_assertion description "[We describe mutations in the PML nuclear body protein Sp110 in the syndrome veno-occlusive disease with immunodeficiency, an autosomal recessive disorder of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP790025.RAbJ7klXaADUL078bbe1o2GcPTqdhWBNpuuBlbT2MUog4130_provenance.
- NP790025.RAbJ7klXaADUL078bbe1o2GcPTqdhWBNpuuBlbT2MUog4130_assertion evidence source_evidence_literature NP790025.RAbJ7klXaADUL078bbe1o2GcPTqdhWBNpuuBlbT2MUog4130_provenance.
- NP790025.RAbJ7klXaADUL078bbe1o2GcPTqdhWBNpuuBlbT2MUog4130_assertion SIO_000772 16648851 NP790025.RAbJ7klXaADUL078bbe1o2GcPTqdhWBNpuuBlbT2MUog4130_provenance.
- NP790025.RAbJ7klXaADUL078bbe1o2GcPTqdhWBNpuuBlbT2MUog4130_assertion wasDerivedFrom befree-20140225 NP790025.RAbJ7klXaADUL078bbe1o2GcPTqdhWBNpuuBlbT2MUog4130_provenance.
- NP790025.RAbJ7klXaADUL078bbe1o2GcPTqdhWBNpuuBlbT2MUog4130_assertion wasGeneratedBy ECO_0000203 NP790025.RAbJ7klXaADUL078bbe1o2GcPTqdhWBNpuuBlbT2MUog4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP790025.RAbJ7klXaADUL078bbe1o2GcPTqdhWBNpuuBlbT2MUog4130_provenance.