Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP540546.RAN94leg7Kp5F_CSqeaV94A0Pl8H9quCg0rsMyV-ZZLfE130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP540546.RAN94leg7Kp5F_CSqeaV94A0Pl8H9quCg0rsMyV-ZZLfE130_assertion type Assertion NP540546.RAN94leg7Kp5F_CSqeaV94A0Pl8H9quCg0rsMyV-ZZLfE130_head.
- NP540546.RAN94leg7Kp5F_CSqeaV94A0Pl8H9quCg0rsMyV-ZZLfE130_assertion description "[We report a new point mutation in the p63 gene in a family in which the mother was initially diagnosed with Rapp-Hodgkin syndrome and her two offspring manifested ankyloblepharon, ectodermal defects, cleft lip and palate, syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP540546.RAN94leg7Kp5F_CSqeaV94A0Pl8H9quCg0rsMyV-ZZLfE130_provenance.
- NP540546.RAN94leg7Kp5F_CSqeaV94A0Pl8H9quCg0rsMyV-ZZLfE130_assertion evidence source_evidence_literature NP540546.RAN94leg7Kp5F_CSqeaV94A0Pl8H9quCg0rsMyV-ZZLfE130_provenance.
- NP540546.RAN94leg7Kp5F_CSqeaV94A0Pl8H9quCg0rsMyV-ZZLfE130_assertion SIO_000772 16190990 NP540546.RAN94leg7Kp5F_CSqeaV94A0Pl8H9quCg0rsMyV-ZZLfE130_provenance.
- NP540546.RAN94leg7Kp5F_CSqeaV94A0Pl8H9quCg0rsMyV-ZZLfE130_assertion wasDerivedFrom befree-20140225 NP540546.RAN94leg7Kp5F_CSqeaV94A0Pl8H9quCg0rsMyV-ZZLfE130_provenance.
- NP540546.RAN94leg7Kp5F_CSqeaV94A0Pl8H9quCg0rsMyV-ZZLfE130_assertion wasGeneratedBy ECO_0000203 NP540546.RAN94leg7Kp5F_CSqeaV94A0Pl8H9quCg0rsMyV-ZZLfE130_provenance.