Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP356490.RAGuY_jGy60PhFRMN26YjkjEyNJJZQ7dd3WO7ZKt8Ciz0130_assertion> ?p ?o ?g. }
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- NP356490.RAGuY_jGy60PhFRMN26YjkjEyNJJZQ7dd3WO7ZKt8Ciz0130_assertion type Assertion NP356490.RAGuY_jGy60PhFRMN26YjkjEyNJJZQ7dd3WO7ZKt8Ciz0130_head.
- NP356490.RAGuY_jGy60PhFRMN26YjkjEyNJJZQ7dd3WO7ZKt8Ciz0130_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." NP356490.RAGuY_jGy60PhFRMN26YjkjEyNJJZQ7dd3WO7ZKt8Ciz0130_provenance.
- NP356490.RAGuY_jGy60PhFRMN26YjkjEyNJJZQ7dd3WO7ZKt8Ciz0130_assertion evidence source_evidence_literature NP356490.RAGuY_jGy60PhFRMN26YjkjEyNJJZQ7dd3WO7ZKt8Ciz0130_provenance.
- NP356490.RAGuY_jGy60PhFRMN26YjkjEyNJJZQ7dd3WO7ZKt8Ciz0130_assertion SIO_000772 23335590 NP356490.RAGuY_jGy60PhFRMN26YjkjEyNJJZQ7dd3WO7ZKt8Ciz0130_provenance.
- NP356490.RAGuY_jGy60PhFRMN26YjkjEyNJJZQ7dd3WO7ZKt8Ciz0130_assertion wasDerivedFrom befree-20140225 NP356490.RAGuY_jGy60PhFRMN26YjkjEyNJJZQ7dd3WO7ZKt8Ciz0130_provenance.
- NP356490.RAGuY_jGy60PhFRMN26YjkjEyNJJZQ7dd3WO7ZKt8Ciz0130_assertion wasGeneratedBy ECO_0000203 NP356490.RAGuY_jGy60PhFRMN26YjkjEyNJJZQ7dd3WO7ZKt8Ciz0130_provenance.