Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1137191.RA-TgBenmYRxdXJO3OzCW4l5jwgHdvzflFjfqBK-7qQS4#assertion> ?p ?o ?g. }
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- assertion description "[A case was identified with typical symptoms of OPMD, negative for the repeat expansion mutation but with a missense mutation in PABPN1 close to the 3' end of the normal polyalanine codon repeat sequence.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 16648376 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.