Matches in Nanopublications for { ?s ?p "[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."@en ?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.
- NP547519.RAplz1qjp0iuS4gskU4tJa0GCpjSWwDJCV0a7DaWk423I130_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." NP547519.RAplz1qjp0iuS4gskU4tJa0GCpjSWwDJCV0a7DaWk423I130_provenance.