Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP588967.RAujp40x3mAqp1SMd5XYHWoYqgRIvN4UVarhHjLT4HSfk130_assertion> ?p ?o ?g. }
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- NP588967.RAujp40x3mAqp1SMd5XYHWoYqgRIvN4UVarhHjLT4HSfk130_assertion type Assertion NP588967.RAujp40x3mAqp1SMd5XYHWoYqgRIvN4UVarhHjLT4HSfk130_head.
- NP588967.RAujp40x3mAqp1SMd5XYHWoYqgRIvN4UVarhHjLT4HSfk130_assertion wasGeneratedBy ECO_0000203 NP588967.RAujp40x3mAqp1SMd5XYHWoYqgRIvN4UVarhHjLT4HSfk130_provenance.
- NP588967.RAujp40x3mAqp1SMd5XYHWoYqgRIvN4UVarhHjLT4HSfk130_assertion wasDerivedFrom befree-2016 NP588967.RAujp40x3mAqp1SMd5XYHWoYqgRIvN4UVarhHjLT4HSfk130_provenance.
- NP588967.RAujp40x3mAqp1SMd5XYHWoYqgRIvN4UVarhHjLT4HSfk130_assertion SIO_000772 17224651 NP588967.RAujp40x3mAqp1SMd5XYHWoYqgRIvN4UVarhHjLT4HSfk130_provenance.
- NP588967.RAujp40x3mAqp1SMd5XYHWoYqgRIvN4UVarhHjLT4HSfk130_assertion evidence source_evidence_literature NP588967.RAujp40x3mAqp1SMd5XYHWoYqgRIvN4UVarhHjLT4HSfk130_provenance.
- NP588967.RAujp40x3mAqp1SMd5XYHWoYqgRIvN4UVarhHjLT4HSfk130_assertion description "[Heterozygous mutations in the transcription factor gene p63 are causative for several syndromes, with ectodermal dysplasia, orofacial clefting and limb malformations as the key characteristics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP588967.RAujp40x3mAqp1SMd5XYHWoYqgRIvN4UVarhHjLT4HSfk130_provenance.