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- source_evidence_literature type ECO_0000212 NP934829.RAB8UmBxuA-cm0smfN97_18uvVCn1uJ7kwNW-2fHR__p0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP934829.RAB8UmBxuA-cm0smfN97_18uvVCn1uJ7kwNW-2fHR__p0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP934829.RAB8UmBxuA-cm0smfN97_18uvVCn1uJ7kwNW-2fHR__p0130_provenance.
- NP934829.RAB8UmBxuA-cm0smfN97_18uvVCn1uJ7kwNW-2fHR__p0130_assertion description "[We have identified the mutation in a phosphoglycerate kinase variant (PGK-Matsue) associated with severe enzyme deficiency, congenital nonspherocytic hemolytic anemia, and mental disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP934829.RAB8UmBxuA-cm0smfN97_18uvVCn1uJ7kwNW-2fHR__p0130_provenance.
- NP934829.RAB8UmBxuA-cm0smfN97_18uvVCn1uJ7kwNW-2fHR__p0130_assertion evidence source_evidence_literature NP934829.RAB8UmBxuA-cm0smfN97_18uvVCn1uJ7kwNW-2fHR__p0130_provenance.
- NP934829.RAB8UmBxuA-cm0smfN97_18uvVCn1uJ7kwNW-2fHR__p0130_assertion SIO_000772 2001457 NP934829.RAB8UmBxuA-cm0smfN97_18uvVCn1uJ7kwNW-2fHR__p0130_provenance.
- NP934829.RAB8UmBxuA-cm0smfN97_18uvVCn1uJ7kwNW-2fHR__p0130_assertion wasDerivedFrom befree-20140225 NP934829.RAB8UmBxuA-cm0smfN97_18uvVCn1uJ7kwNW-2fHR__p0130_provenance.
- NP934829.RAB8UmBxuA-cm0smfN97_18uvVCn1uJ7kwNW-2fHR__p0130_assertion wasGeneratedBy ECO_0000203 NP934829.RAB8UmBxuA-cm0smfN97_18uvVCn1uJ7kwNW-2fHR__p0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP934829.RAB8UmBxuA-cm0smfN97_18uvVCn1uJ7kwNW-2fHR__p0130_provenance.