Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1116538.RA9gwnRhTI1jC2HEPGlu4jYKuMikJ1mOZNTczsn4JQvss130_assertion> ?p ?o ?g. }
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- NP1116538.RA9gwnRhTI1jC2HEPGlu4jYKuMikJ1mOZNTczsn4JQvss130_assertion type Assertion NP1116538.RA9gwnRhTI1jC2HEPGlu4jYKuMikJ1mOZNTczsn4JQvss130_head.
- NP1116538.RA9gwnRhTI1jC2HEPGlu4jYKuMikJ1mOZNTczsn4JQvss130_assertion description "[Functional studies, including chondrogenesis assays with primary mesenchymal cells, luciferase reporter gene assays and Surface Plasmon Resonance analysis, of the GDF5(W414R) variant in comparison to other GDF5 mutations associated with isolated BDA1 (p.R399C) or SYNS2 (p.E491K) revealed a dual pathomechanism characterized by a gain- and loss-of-function at the same time.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1116538.RA9gwnRhTI1jC2HEPGlu4jYKuMikJ1mOZNTczsn4JQvss130_provenance.
- NP1116538.RA9gwnRhTI1jC2HEPGlu4jYKuMikJ1mOZNTczsn4JQvss130_assertion evidence source_evidence_literature NP1116538.RA9gwnRhTI1jC2HEPGlu4jYKuMikJ1mOZNTczsn4JQvss130_provenance.
- NP1116538.RA9gwnRhTI1jC2HEPGlu4jYKuMikJ1mOZNTczsn4JQvss130_assertion SIO_000772 24098149 NP1116538.RA9gwnRhTI1jC2HEPGlu4jYKuMikJ1mOZNTczsn4JQvss130_provenance.
- NP1116538.RA9gwnRhTI1jC2HEPGlu4jYKuMikJ1mOZNTczsn4JQvss130_assertion wasDerivedFrom befree-2016 NP1116538.RA9gwnRhTI1jC2HEPGlu4jYKuMikJ1mOZNTczsn4JQvss130_provenance.
- NP1116538.RA9gwnRhTI1jC2HEPGlu4jYKuMikJ1mOZNTczsn4JQvss130_assertion wasGeneratedBy ECO_0000203 NP1116538.RA9gwnRhTI1jC2HEPGlu4jYKuMikJ1mOZNTczsn4JQvss130_provenance.