Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP604014.RApftMXEsVO3QX3kL4C6F1tD9tGCUt_BwzCawoVuciLTk130_assertion> ?p ?o ?g. }
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- NP604014.RApftMXEsVO3QX3kL4C6F1tD9tGCUt_BwzCawoVuciLTk130_assertion type Assertion NP604014.RApftMXEsVO3QX3kL4C6F1tD9tGCUt_BwzCawoVuciLTk130_head.
- NP604014.RApftMXEsVO3QX3kL4C6F1tD9tGCUt_BwzCawoVuciLTk130_assertion description "[In addition, the p.P252R mutation in FGFR1 was detected in 1 PS patient with unilateral coronal craniosynostosis expanding the phenotypic spectrum of PS with this particular mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP604014.RApftMXEsVO3QX3kL4C6F1tD9tGCUt_BwzCawoVuciLTk130_provenance.
- NP604014.RApftMXEsVO3QX3kL4C6F1tD9tGCUt_BwzCawoVuciLTk130_assertion evidence source_evidence_literature NP604014.RApftMXEsVO3QX3kL4C6F1tD9tGCUt_BwzCawoVuciLTk130_provenance.
- NP604014.RApftMXEsVO3QX3kL4C6F1tD9tGCUt_BwzCawoVuciLTk130_assertion SIO_000772 23348274 NP604014.RApftMXEsVO3QX3kL4C6F1tD9tGCUt_BwzCawoVuciLTk130_provenance.
- NP604014.RApftMXEsVO3QX3kL4C6F1tD9tGCUt_BwzCawoVuciLTk130_assertion wasDerivedFrom befree-20140225 NP604014.RApftMXEsVO3QX3kL4C6F1tD9tGCUt_BwzCawoVuciLTk130_provenance.
- NP604014.RApftMXEsVO3QX3kL4C6F1tD9tGCUt_BwzCawoVuciLTk130_assertion wasGeneratedBy ECO_0000203 NP604014.RApftMXEsVO3QX3kL4C6F1tD9tGCUt_BwzCawoVuciLTk130_provenance.