Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP453495.RA5QQKJd0jOHIdroyscC_vm93uWdSKSC1q5AQpGZL0JIw130_assertion> ?p ?o ?g. }
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- NP453495.RA5QQKJd0jOHIdroyscC_vm93uWdSKSC1q5AQpGZL0JIw130_assertion type Assertion NP453495.RA5QQKJd0jOHIdroyscC_vm93uWdSKSC1q5AQpGZL0JIw130_head.
- NP453495.RA5QQKJd0jOHIdroyscC_vm93uWdSKSC1q5AQpGZL0JIw130_assertion description "[The purpose of this study was to determine whether FGFR1 mutations were present in a unique family with autosomal dominant, fully penetrant, normosmic IHH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP453495.RA5QQKJd0jOHIdroyscC_vm93uWdSKSC1q5AQpGZL0JIw130_provenance.
- NP453495.RA5QQKJd0jOHIdroyscC_vm93uWdSKSC1q5AQpGZL0JIw130_assertion evidence source_evidence_literature NP453495.RA5QQKJd0jOHIdroyscC_vm93uWdSKSC1q5AQpGZL0JIw130_provenance.
- NP453495.RA5QQKJd0jOHIdroyscC_vm93uWdSKSC1q5AQpGZL0JIw130_assertion SIO_000772 17200176 NP453495.RA5QQKJd0jOHIdroyscC_vm93uWdSKSC1q5AQpGZL0JIw130_provenance.
- NP453495.RA5QQKJd0jOHIdroyscC_vm93uWdSKSC1q5AQpGZL0JIw130_assertion wasDerivedFrom befree-20140225 NP453495.RA5QQKJd0jOHIdroyscC_vm93uWdSKSC1q5AQpGZL0JIw130_provenance.
- NP453495.RA5QQKJd0jOHIdroyscC_vm93uWdSKSC1q5AQpGZL0JIw130_assertion wasGeneratedBy ECO_0000203 NP453495.RA5QQKJd0jOHIdroyscC_vm93uWdSKSC1q5AQpGZL0JIw130_provenance.