Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1253276.RAcVkuMLATXM-DaObWqI6HL090jvaXW0aaOGtzGuSIm70#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- assertion description "[The PHF8 missense mutation c.836C>T is associated with mild MR, mild dysmorphic features, and either unilateral or bilateral cleft lip and cleft palate in two male siblings.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 19843542 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.