Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1012116.RA6WGlDFGTNcrqZMbgTgARLEoWFAFZB8gR1QG7CF8jCJI130_assertion> ?p ?o ?g. }
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- NP1012116.RA6WGlDFGTNcrqZMbgTgARLEoWFAFZB8gR1QG7CF8jCJI130_assertion type Assertion NP1012116.RA6WGlDFGTNcrqZMbgTgARLEoWFAFZB8gR1QG7CF8jCJI130_head.
- NP1012116.RA6WGlDFGTNcrqZMbgTgARLEoWFAFZB8gR1QG7CF8jCJI130_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." NP1012116.RA6WGlDFGTNcrqZMbgTgARLEoWFAFZB8gR1QG7CF8jCJI130_provenance.
- NP1012116.RA6WGlDFGTNcrqZMbgTgARLEoWFAFZB8gR1QG7CF8jCJI130_assertion evidence source_evidence_literature NP1012116.RA6WGlDFGTNcrqZMbgTgARLEoWFAFZB8gR1QG7CF8jCJI130_provenance.
- NP1012116.RA6WGlDFGTNcrqZMbgTgARLEoWFAFZB8gR1QG7CF8jCJI130_assertion SIO_000772 22967083 NP1012116.RA6WGlDFGTNcrqZMbgTgARLEoWFAFZB8gR1QG7CF8jCJI130_provenance.
- NP1012116.RA6WGlDFGTNcrqZMbgTgARLEoWFAFZB8gR1QG7CF8jCJI130_assertion wasDerivedFrom befree-2016 NP1012116.RA6WGlDFGTNcrqZMbgTgARLEoWFAFZB8gR1QG7CF8jCJI130_provenance.
- NP1012116.RA6WGlDFGTNcrqZMbgTgARLEoWFAFZB8gR1QG7CF8jCJI130_assertion wasGeneratedBy ECO_0000203 NP1012116.RA6WGlDFGTNcrqZMbgTgARLEoWFAFZB8gR1QG7CF8jCJI130_provenance.