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- source_evidence_literature type ECO_0000212 NP457104.RAFzyl5SwuGgg3imI3iyK2KuGrLmSahJSLrjF4-z1HBl8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP457104.RAFzyl5SwuGgg3imI3iyK2KuGrLmSahJSLrjF4-z1HBl8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP457104.RAFzyl5SwuGgg3imI3iyK2KuGrLmSahJSLrjF4-z1HBl8130_provenance.
- NP457104.RAFzyl5SwuGgg3imI3iyK2KuGrLmSahJSLrjF4-z1HBl8130_assertion description "[The disease marble brain syndrome (MBS), known also as carbonic anhydrase II deficiency syndrome (CADS), can manifest in carriers of point mutations in the human carbonic anhydrase II (HCA II) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP457104.RAFzyl5SwuGgg3imI3iyK2KuGrLmSahJSLrjF4-z1HBl8130_provenance.
- NP457104.RAFzyl5SwuGgg3imI3iyK2KuGrLmSahJSLrjF4-z1HBl8130_assertion evidence source_evidence_literature NP457104.RAFzyl5SwuGgg3imI3iyK2KuGrLmSahJSLrjF4-z1HBl8130_provenance.
- NP457104.RAFzyl5SwuGgg3imI3iyK2KuGrLmSahJSLrjF4-z1HBl8130_assertion SIO_000772 15327960 NP457104.RAFzyl5SwuGgg3imI3iyK2KuGrLmSahJSLrjF4-z1HBl8130_provenance.
- NP457104.RAFzyl5SwuGgg3imI3iyK2KuGrLmSahJSLrjF4-z1HBl8130_assertion wasDerivedFrom befree-2016 NP457104.RAFzyl5SwuGgg3imI3iyK2KuGrLmSahJSLrjF4-z1HBl8130_provenance.
- NP457104.RAFzyl5SwuGgg3imI3iyK2KuGrLmSahJSLrjF4-z1HBl8130_assertion wasGeneratedBy ECO_0000203 NP457104.RAFzyl5SwuGgg3imI3iyK2KuGrLmSahJSLrjF4-z1HBl8130_provenance.
- befree-2016 importedOn "2016-02-19" NP457104.RAFzyl5SwuGgg3imI3iyK2KuGrLmSahJSLrjF4-z1HBl8130_provenance.