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- source_evidence_literature type ECO_0000212 NP978948.RAK3sDEfIiqmsbExnDELC1xDsN0KWKMyHXrFnPGeohJwI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP978948.RAK3sDEfIiqmsbExnDELC1xDsN0KWKMyHXrFnPGeohJwI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP978948.RAK3sDEfIiqmsbExnDELC1xDsN0KWKMyHXrFnPGeohJwI130_provenance.
- befree-2016 importedOn "2016-02-19" NP978948.RAK3sDEfIiqmsbExnDELC1xDsN0KWKMyHXrFnPGeohJwI130_provenance.
- NP978948.RAK3sDEfIiqmsbExnDELC1xDsN0KWKMyHXrFnPGeohJwI130_assertion wasGeneratedBy ECO_0000203 NP978948.RAK3sDEfIiqmsbExnDELC1xDsN0KWKMyHXrFnPGeohJwI130_provenance.
- NP978948.RAK3sDEfIiqmsbExnDELC1xDsN0KWKMyHXrFnPGeohJwI130_assertion wasDerivedFrom befree-2016 NP978948.RAK3sDEfIiqmsbExnDELC1xDsN0KWKMyHXrFnPGeohJwI130_provenance.
- NP978948.RAK3sDEfIiqmsbExnDELC1xDsN0KWKMyHXrFnPGeohJwI130_assertion SIO_000772 22550014 NP978948.RAK3sDEfIiqmsbExnDELC1xDsN0KWKMyHXrFnPGeohJwI130_provenance.
- NP978948.RAK3sDEfIiqmsbExnDELC1xDsN0KWKMyHXrFnPGeohJwI130_assertion evidence source_evidence_literature NP978948.RAK3sDEfIiqmsbExnDELC1xDsN0KWKMyHXrFnPGeohJwI130_provenance.
- NP978948.RAK3sDEfIiqmsbExnDELC1xDsN0KWKMyHXrFnPGeohJwI130_assertion description "[We identified a homozygous, splice-site point mutation in IL10RA in an infantile-onset IBD patient causing a premature stop codon (P206X) and IL-10 insensitivity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978948.RAK3sDEfIiqmsbExnDELC1xDsN0KWKMyHXrFnPGeohJwI130_provenance.