Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP299788.RA45yqtmZ9wTbJ7CacHP8_S6aSSNiMIRPSuLUEzkAB9B4130_assertion> ?p ?o ?g. }
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- NP299788.RA45yqtmZ9wTbJ7CacHP8_S6aSSNiMIRPSuLUEzkAB9B4130_assertion type Assertion NP299788.RA45yqtmZ9wTbJ7CacHP8_S6aSSNiMIRPSuLUEzkAB9B4130_head.
- NP299788.RA45yqtmZ9wTbJ7CacHP8_S6aSSNiMIRPSuLUEzkAB9B4130_assertion description "[Craniofrontonasal syndrome (CFNS), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis and additional minor malformations, but males are usually more mildly affected with hypertelorism as the only feature.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP299788.RA45yqtmZ9wTbJ7CacHP8_S6aSSNiMIRPSuLUEzkAB9B4130_provenance.
- NP299788.RA45yqtmZ9wTbJ7CacHP8_S6aSSNiMIRPSuLUEzkAB9B4130_assertion evidence source_evidence_literature NP299788.RA45yqtmZ9wTbJ7CacHP8_S6aSSNiMIRPSuLUEzkAB9B4130_provenance.
- NP299788.RA45yqtmZ9wTbJ7CacHP8_S6aSSNiMIRPSuLUEzkAB9B4130_assertion SIO_000772 23335590 NP299788.RA45yqtmZ9wTbJ7CacHP8_S6aSSNiMIRPSuLUEzkAB9B4130_provenance.
- NP299788.RA45yqtmZ9wTbJ7CacHP8_S6aSSNiMIRPSuLUEzkAB9B4130_assertion wasDerivedFrom befree-20140225 NP299788.RA45yqtmZ9wTbJ7CacHP8_S6aSSNiMIRPSuLUEzkAB9B4130_provenance.
- NP299788.RA45yqtmZ9wTbJ7CacHP8_S6aSSNiMIRPSuLUEzkAB9B4130_assertion wasGeneratedBy ECO_0000203 NP299788.RA45yqtmZ9wTbJ7CacHP8_S6aSSNiMIRPSuLUEzkAB9B4130_provenance.