Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP22711.RAMK-xh80USDiotNYly2S590cxcATgYsEFe1I5Hsuls-Q#assertion> ?p ?o ?g. }
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- assertion description "[The 4529insA mutation appeared to be homozygous in this patient and was not found in 20 unrelated controls or 18 other GSD-III patients (14 GSD-IIIa and 4 GSD-IIIb).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 8990006 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.