Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1151131.RAjXC8fyyxnj9PGQ93JRNK9jh6jQKYEcBcCZifN7nM_H0#provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." provenance.
- assertion description "[We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 11462173 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.
- CTD_human importedOn "2017-01-25" provenance.