Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP352868.RASxY7qICQmjgRlYBqWgSTlKOsUA3hh12g5qxkuwgNr3w130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP352868.RASxY7qICQmjgRlYBqWgSTlKOsUA3hh12g5qxkuwgNr3w130_assertion type Assertion NP352868.RASxY7qICQmjgRlYBqWgSTlKOsUA3hh12g5qxkuwgNr3w130_head.
- NP352868.RASxY7qICQmjgRlYBqWgSTlKOsUA3hh12g5qxkuwgNr3w130_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." NP352868.RASxY7qICQmjgRlYBqWgSTlKOsUA3hh12g5qxkuwgNr3w130_provenance.
- NP352868.RASxY7qICQmjgRlYBqWgSTlKOsUA3hh12g5qxkuwgNr3w130_assertion evidence source_evidence_literature NP352868.RASxY7qICQmjgRlYBqWgSTlKOsUA3hh12g5qxkuwgNr3w130_provenance.
- NP352868.RASxY7qICQmjgRlYBqWgSTlKOsUA3hh12g5qxkuwgNr3w130_assertion SIO_000772 23335590 NP352868.RASxY7qICQmjgRlYBqWgSTlKOsUA3hh12g5qxkuwgNr3w130_provenance.
- NP352868.RASxY7qICQmjgRlYBqWgSTlKOsUA3hh12g5qxkuwgNr3w130_assertion wasDerivedFrom befree-20140225 NP352868.RASxY7qICQmjgRlYBqWgSTlKOsUA3hh12g5qxkuwgNr3w130_provenance.
- NP352868.RASxY7qICQmjgRlYBqWgSTlKOsUA3hh12g5qxkuwgNr3w130_assertion wasGeneratedBy ECO_0000203 NP352868.RASxY7qICQmjgRlYBqWgSTlKOsUA3hh12g5qxkuwgNr3w130_provenance.