Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP505337.RAl1M920Tzgwaf_tfz-X6APuxZ6cgWiCX5FmabXE9iS8I130_assertion> ?p ?o ?g. }
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- NP505337.RAl1M920Tzgwaf_tfz-X6APuxZ6cgWiCX5FmabXE9iS8I130_assertion type Assertion NP505337.RAl1M920Tzgwaf_tfz-X6APuxZ6cgWiCX5FmabXE9iS8I130_head.
- NP505337.RAl1M920Tzgwaf_tfz-X6APuxZ6cgWiCX5FmabXE9iS8I130_assertion wasGeneratedBy ECO_0000203 NP505337.RAl1M920Tzgwaf_tfz-X6APuxZ6cgWiCX5FmabXE9iS8I130_provenance.
- NP505337.RAl1M920Tzgwaf_tfz-X6APuxZ6cgWiCX5FmabXE9iS8I130_assertion wasDerivedFrom befree-2016 NP505337.RAl1M920Tzgwaf_tfz-X6APuxZ6cgWiCX5FmabXE9iS8I130_provenance.
- NP505337.RAl1M920Tzgwaf_tfz-X6APuxZ6cgWiCX5FmabXE9iS8I130_assertion SIO_000772 16037974 NP505337.RAl1M920Tzgwaf_tfz-X6APuxZ6cgWiCX5FmabXE9iS8I130_provenance.
- NP505337.RAl1M920Tzgwaf_tfz-X6APuxZ6cgWiCX5FmabXE9iS8I130_assertion evidence source_evidence_literature NP505337.RAl1M920Tzgwaf_tfz-X6APuxZ6cgWiCX5FmabXE9iS8I130_provenance.
- NP505337.RAl1M920Tzgwaf_tfz-X6APuxZ6cgWiCX5FmabXE9iS8I130_assertion description "[Recently, we reported pathogenic mutations in the D-2-hydroxyglutarate dehydrogenase gene as the cause of the severe phenotype of D-2-hydroxyglutaric aciduria in two patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP505337.RAl1M920Tzgwaf_tfz-X6APuxZ6cgWiCX5FmabXE9iS8I130_provenance.