Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9664.RANx5oqlibqVFfA2o_qwQqztD_Z4v6D7_BzYDojq30lSc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9664.RANx5oqlibqVFfA2o_qwQqztD_Z4v6D7_BzYDojq30lSc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9664.RANx5oqlibqVFfA2o_qwQqztD_Z4v6D7_BzYDojq30lSc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9664.RANx5oqlibqVFfA2o_qwQqztD_Z4v6D7_BzYDojq30lSc130_provenance.
- NP9664.RANx5oqlibqVFfA2o_qwQqztD_Z4v6D7_BzYDojq30lSc130_assertion description "[Expression of the variant R147W SCAD protein, encoded by the 511T-625G allele, in COS-7 cells showed 45% activity at 37 degrees C in comparison with the wild-type protein, comparable levels of activity at 26 degrees C, and 13% activity when incubated at 41 degrees C. This temperature profile is different from that observed for the variant G185S SCAD protein, encoded by the 511C-625A allele, where higher than normal activity was found at 26 and 37 degrees C, and 58% activity was present at 41 degrees C. These results corroborate the notion that the 511C-625A variant allele is one of the possible underlying causes of ethylmalonic aciduria, and suggest that the 511C-->T mutation represents a second susceptibility variation in the SCAD gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9664.RANx5oqlibqVFfA2o_qwQqztD_Z4v6D7_BzYDojq30lSc130_provenance.
- NP9664.RANx5oqlibqVFfA2o_qwQqztD_Z4v6D7_BzYDojq30lSc130_assertion evidence source_evidence_curated NP9664.RANx5oqlibqVFfA2o_qwQqztD_Z4v6D7_BzYDojq30lSc130_provenance.
- NP9664.RANx5oqlibqVFfA2o_qwQqztD_Z4v6D7_BzYDojq30lSc130_assertion SIO_000772 9499414 NP9664.RANx5oqlibqVFfA2o_qwQqztD_Z4v6D7_BzYDojq30lSc130_provenance.
- NP9664.RANx5oqlibqVFfA2o_qwQqztD_Z4v6D7_BzYDojq30lSc130_assertion wasDerivedFrom uniprot-2016 NP9664.RANx5oqlibqVFfA2o_qwQqztD_Z4v6D7_BzYDojq30lSc130_provenance.
- NP9664.RANx5oqlibqVFfA2o_qwQqztD_Z4v6D7_BzYDojq30lSc130_assertion wasGeneratedBy ECO_0000218 NP9664.RANx5oqlibqVFfA2o_qwQqztD_Z4v6D7_BzYDojq30lSc130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9664.RANx5oqlibqVFfA2o_qwQqztD_Z4v6D7_BzYDojq30lSc130_provenance.