Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP445557.RAB8shuhyU8lCATJq7NuOKqh8iB4fL4J-KlrSsDE-ggcc130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP445557.RAB8shuhyU8lCATJq7NuOKqh8iB4fL4J-KlrSsDE-ggcc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP445557.RAB8shuhyU8lCATJq7NuOKqh8iB4fL4J-KlrSsDE-ggcc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP445557.RAB8shuhyU8lCATJq7NuOKqh8iB4fL4J-KlrSsDE-ggcc130_provenance.
- NP445557.RAB8shuhyU8lCATJq7NuOKqh8iB4fL4J-KlrSsDE-ggcc130_assertion wasGeneratedBy ECO_0000203 NP445557.RAB8shuhyU8lCATJq7NuOKqh8iB4fL4J-KlrSsDE-ggcc130_provenance.
- NP445557.RAB8shuhyU8lCATJq7NuOKqh8iB4fL4J-KlrSsDE-ggcc130_assertion wasDerivedFrom befree-20140225 NP445557.RAB8shuhyU8lCATJq7NuOKqh8iB4fL4J-KlrSsDE-ggcc130_provenance.
- NP445557.RAB8shuhyU8lCATJq7NuOKqh8iB4fL4J-KlrSsDE-ggcc130_assertion SIO_000772 21615690 NP445557.RAB8shuhyU8lCATJq7NuOKqh8iB4fL4J-KlrSsDE-ggcc130_provenance.
- NP445557.RAB8shuhyU8lCATJq7NuOKqh8iB4fL4J-KlrSsDE-ggcc130_assertion evidence source_evidence_literature NP445557.RAB8shuhyU8lCATJq7NuOKqh8iB4fL4J-KlrSsDE-ggcc130_provenance.
- NP445557.RAB8shuhyU8lCATJq7NuOKqh8iB4fL4J-KlrSsDE-ggcc130_assertion description "[Several missense and heterozygous frame shift mutations, encoded within exon 13 and 14 of the p63 gene, have been identified in the p63α SAM domain in patients suffering from ankyloblepharon-ectodermal dysplasia-clefting syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP445557.RAB8shuhyU8lCATJq7NuOKqh8iB4fL4J-KlrSsDE-ggcc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP445557.RAB8shuhyU8lCATJq7NuOKqh8iB4fL4J-KlrSsDE-ggcc130_provenance.