Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP445557.RAB8shuhyU8lCATJq7NuOKqh8iB4fL4J-KlrSsDE-ggcc130_assertion> ?p ?o ?g. }
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- NP445557.RAB8shuhyU8lCATJq7NuOKqh8iB4fL4J-KlrSsDE-ggcc130_assertion type Assertion NP445557.RAB8shuhyU8lCATJq7NuOKqh8iB4fL4J-KlrSsDE-ggcc130_head.
- 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.