Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP448797.RAArQn6HDcW04O7FUgRs8ulanHMCPtREW3BTyz0_mhoww#assertion> ?p ?o ?g. }
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- assertion description "[A single-nucleotide variant(c.548G>A, p.Arg183Gln) in GNAQ was identified in the PWS-affected tissue but not in the normal skin sample.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25188413 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.