Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP8662.RAN5FjatsYvi2VZ23ENoDZJYmi3qTS9kNQFE-Xg1hIJl0#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion SIO_000772 16317551 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.