Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP663478.RAfjrmTPS8KAX30Zl104j8ABKheWxqEgNuTfCWMHcQZLU130_assertion> ?p ?o ?g. }
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- NP663478.RAfjrmTPS8KAX30Zl104j8ABKheWxqEgNuTfCWMHcQZLU130_assertion type Assertion NP663478.RAfjrmTPS8KAX30Zl104j8ABKheWxqEgNuTfCWMHcQZLU130_head.
- NP663478.RAfjrmTPS8KAX30Zl104j8ABKheWxqEgNuTfCWMHcQZLU130_assertion description "[Achondroplasia, the most common form of dwarfism in man, is a dominant genetic disorder caused by a point mutation (G380R) in the transmembrane region of fibroblast growth factor receptor 3 (FGFR3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP663478.RAfjrmTPS8KAX30Zl104j8ABKheWxqEgNuTfCWMHcQZLU130_provenance.
- NP663478.RAfjrmTPS8KAX30Zl104j8ABKheWxqEgNuTfCWMHcQZLU130_assertion evidence source_evidence_literature NP663478.RAfjrmTPS8KAX30Zl104j8ABKheWxqEgNuTfCWMHcQZLU130_provenance.
- NP663478.RAfjrmTPS8KAX30Zl104j8ABKheWxqEgNuTfCWMHcQZLU130_assertion SIO_000772 10200283 NP663478.RAfjrmTPS8KAX30Zl104j8ABKheWxqEgNuTfCWMHcQZLU130_provenance.
- NP663478.RAfjrmTPS8KAX30Zl104j8ABKheWxqEgNuTfCWMHcQZLU130_assertion wasDerivedFrom befree-20140225 NP663478.RAfjrmTPS8KAX30Zl104j8ABKheWxqEgNuTfCWMHcQZLU130_provenance.
- NP663478.RAfjrmTPS8KAX30Zl104j8ABKheWxqEgNuTfCWMHcQZLU130_assertion wasGeneratedBy ECO_0000203 NP663478.RAfjrmTPS8KAX30Zl104j8ABKheWxqEgNuTfCWMHcQZLU130_provenance.