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- source_evidence_literature type ECO_0000212 NP353680.RAkASapo896Sesffw49KC11drtr8Uip_2NckbKtgc9pPQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP353680.RAkASapo896Sesffw49KC11drtr8Uip_2NckbKtgc9pPQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP353680.RAkASapo896Sesffw49KC11drtr8Uip_2NckbKtgc9pPQ130_provenance.
- NP353680.RAkASapo896Sesffw49KC11drtr8Uip_2NckbKtgc9pPQ130_assertion description "[In conclusion, the G202A and R346W mutation causes deficient protein stability, and the R135C mutation does not affect stability but impairs the substrate-induced enzymatic activity, suggesting that impairment of DHODH activity is linked to the Miller syndrome phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP353680.RAkASapo896Sesffw49KC11drtr8Uip_2NckbKtgc9pPQ130_provenance.
- NP353680.RAkASapo896Sesffw49KC11drtr8Uip_2NckbKtgc9pPQ130_assertion evidence source_evidence_literature NP353680.RAkASapo896Sesffw49KC11drtr8Uip_2NckbKtgc9pPQ130_provenance.
- NP353680.RAkASapo896Sesffw49KC11drtr8Uip_2NckbKtgc9pPQ130_assertion SIO_000772 22967083 NP353680.RAkASapo896Sesffw49KC11drtr8Uip_2NckbKtgc9pPQ130_provenance.
- NP353680.RAkASapo896Sesffw49KC11drtr8Uip_2NckbKtgc9pPQ130_assertion wasDerivedFrom befree-20150227 NP353680.RAkASapo896Sesffw49KC11drtr8Uip_2NckbKtgc9pPQ130_provenance.
- NP353680.RAkASapo896Sesffw49KC11drtr8Uip_2NckbKtgc9pPQ130_assertion wasGeneratedBy ECO_0000203 NP353680.RAkASapo896Sesffw49KC11drtr8Uip_2NckbKtgc9pPQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP353680.RAkASapo896Sesffw49KC11drtr8Uip_2NckbKtgc9pPQ130_provenance.