Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP515502.RA1G2Jt0OdTylIaGw_MKiCmPotWc2QFJiFbR0KLtByQpU130_assertion> ?p ?o ?g. }
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- NP515502.RA1G2Jt0OdTylIaGw_MKiCmPotWc2QFJiFbR0KLtByQpU130_assertion type Assertion NP515502.RA1G2Jt0OdTylIaGw_MKiCmPotWc2QFJiFbR0KLtByQpU130_head.
- NP515502.RA1G2Jt0OdTylIaGw_MKiCmPotWc2QFJiFbR0KLtByQpU130_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." NP515502.RA1G2Jt0OdTylIaGw_MKiCmPotWc2QFJiFbR0KLtByQpU130_provenance.
- NP515502.RA1G2Jt0OdTylIaGw_MKiCmPotWc2QFJiFbR0KLtByQpU130_assertion evidence source_evidence_literature NP515502.RA1G2Jt0OdTylIaGw_MKiCmPotWc2QFJiFbR0KLtByQpU130_provenance.
- NP515502.RA1G2Jt0OdTylIaGw_MKiCmPotWc2QFJiFbR0KLtByQpU130_assertion SIO_000772 16190990 NP515502.RA1G2Jt0OdTylIaGw_MKiCmPotWc2QFJiFbR0KLtByQpU130_provenance.
- NP515502.RA1G2Jt0OdTylIaGw_MKiCmPotWc2QFJiFbR0KLtByQpU130_assertion wasDerivedFrom befree-2016 NP515502.RA1G2Jt0OdTylIaGw_MKiCmPotWc2QFJiFbR0KLtByQpU130_provenance.
- NP515502.RA1G2Jt0OdTylIaGw_MKiCmPotWc2QFJiFbR0KLtByQpU130_assertion wasGeneratedBy ECO_0000203 NP515502.RA1G2Jt0OdTylIaGw_MKiCmPotWc2QFJiFbR0KLtByQpU130_provenance.