Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP718266.RAm6I3DInD9YPw4on_-nk6EmzLMMc-CMKulFE7P6a5JsI130_assertion> ?p ?o ?g. }
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- NP718266.RAm6I3DInD9YPw4on_-nk6EmzLMMc-CMKulFE7P6a5JsI130_assertion type Assertion NP718266.RAm6I3DInD9YPw4on_-nk6EmzLMMc-CMKulFE7P6a5JsI130_head.
- NP718266.RAm6I3DInD9YPw4on_-nk6EmzLMMc-CMKulFE7P6a5JsI130_assertion description "[Mutation analysis of FGFR-3 revealed a missense mutation in exon 6, c.749 C>G, with a resultant amino acid change from proline to arginine at codon 250 (P250R), in keeping with Muenke syndrome (Am J Hum Genet 1997;60:555-564).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP718266.RAm6I3DInD9YPw4on_-nk6EmzLMMc-CMKulFE7P6a5JsI130_provenance.
- NP718266.RAm6I3DInD9YPw4on_-nk6EmzLMMc-CMKulFE7P6a5JsI130_assertion evidence source_evidence_literature NP718266.RAm6I3DInD9YPw4on_-nk6EmzLMMc-CMKulFE7P6a5JsI130_provenance.
- NP718266.RAm6I3DInD9YPw4on_-nk6EmzLMMc-CMKulFE7P6a5JsI130_assertion SIO_000772 21233754 NP718266.RAm6I3DInD9YPw4on_-nk6EmzLMMc-CMKulFE7P6a5JsI130_provenance.
- NP718266.RAm6I3DInD9YPw4on_-nk6EmzLMMc-CMKulFE7P6a5JsI130_assertion wasDerivedFrom befree-20140225 NP718266.RAm6I3DInD9YPw4on_-nk6EmzLMMc-CMKulFE7P6a5JsI130_provenance.
- NP718266.RAm6I3DInD9YPw4on_-nk6EmzLMMc-CMKulFE7P6a5JsI130_assertion wasGeneratedBy ECO_0000203 NP718266.RAm6I3DInD9YPw4on_-nk6EmzLMMc-CMKulFE7P6a5JsI130_provenance.