Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP261608.RATlT3lqbcfZKBxA0T-bJSllulpTTIdIvepobhuTGLYbE130_assertion> ?p ?o ?g. }
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- NP261608.RATlT3lqbcfZKBxA0T-bJSllulpTTIdIvepobhuTGLYbE130_assertion type Assertion NP261608.RATlT3lqbcfZKBxA0T-bJSllulpTTIdIvepobhuTGLYbE130_head.
- NP261608.RATlT3lqbcfZKBxA0T-bJSllulpTTIdIvepobhuTGLYbE130_assertion description "[Heterozygous mutations in the FGFR1 gene accompanied by a high frequency of cleft palate and other facial dysmorphisms were recently identified in 8% of a large KS cohort, yet the reproductive phenotype of KS patients harboring FGFR1 mutations has not been described.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP261608.RATlT3lqbcfZKBxA0T-bJSllulpTTIdIvepobhuTGLYbE130_provenance.
- NP261608.RATlT3lqbcfZKBxA0T-bJSllulpTTIdIvepobhuTGLYbE130_assertion evidence source_evidence_literature NP261608.RATlT3lqbcfZKBxA0T-bJSllulpTTIdIvepobhuTGLYbE130_provenance.
- NP261608.RATlT3lqbcfZKBxA0T-bJSllulpTTIdIvepobhuTGLYbE130_assertion SIO_000772 16764984 NP261608.RATlT3lqbcfZKBxA0T-bJSllulpTTIdIvepobhuTGLYbE130_provenance.
- NP261608.RATlT3lqbcfZKBxA0T-bJSllulpTTIdIvepobhuTGLYbE130_assertion wasDerivedFrom befree-20140225 NP261608.RATlT3lqbcfZKBxA0T-bJSllulpTTIdIvepobhuTGLYbE130_provenance.
- NP261608.RATlT3lqbcfZKBxA0T-bJSllulpTTIdIvepobhuTGLYbE130_assertion wasGeneratedBy ECO_0000203 NP261608.RATlT3lqbcfZKBxA0T-bJSllulpTTIdIvepobhuTGLYbE130_provenance.