Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1151215.RAS1Ck5SxiurJ-OGkxiyOJ_U9mfgOUDp-mHPRnfWv90v4#assertion> ?p ?o ?g. }
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- assertion description "[Here, we report a three-generation family with ADULT syndrome due to an R243W mutation in TP63, a mutation that has previously been described in one patient with ADULT syndrome and eight unrelated patients with EEC syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 22607287 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.