Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1104782.RADq3xGocWm__5FvebwxZnqLEfaWRyxrXjNMFNjxAHtYc130_assertion> ?p ?o ?g. }
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- NP1104782.RADq3xGocWm__5FvebwxZnqLEfaWRyxrXjNMFNjxAHtYc130_assertion type Assertion NP1104782.RADq3xGocWm__5FvebwxZnqLEfaWRyxrXjNMFNjxAHtYc130_head.
- NP1104782.RADq3xGocWm__5FvebwxZnqLEfaWRyxrXjNMFNjxAHtYc130_assertion wasGeneratedBy ECO_0000203 NP1104782.RADq3xGocWm__5FvebwxZnqLEfaWRyxrXjNMFNjxAHtYc130_provenance.
- NP1104782.RADq3xGocWm__5FvebwxZnqLEfaWRyxrXjNMFNjxAHtYc130_assertion wasDerivedFrom befree-2016 NP1104782.RADq3xGocWm__5FvebwxZnqLEfaWRyxrXjNMFNjxAHtYc130_provenance.
- NP1104782.RADq3xGocWm__5FvebwxZnqLEfaWRyxrXjNMFNjxAHtYc130_assertion SIO_000772 23972473 NP1104782.RADq3xGocWm__5FvebwxZnqLEfaWRyxrXjNMFNjxAHtYc130_provenance.
- NP1104782.RADq3xGocWm__5FvebwxZnqLEfaWRyxrXjNMFNjxAHtYc130_assertion evidence source_evidence_literature NP1104782.RADq3xGocWm__5FvebwxZnqLEfaWRyxrXjNMFNjxAHtYc130_provenance.
- NP1104782.RADq3xGocWm__5FvebwxZnqLEfaWRyxrXjNMFNjxAHtYc130_assertion description "[The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes Thanatophoric Dysplasia type II, a neonatal lethal congenital dwarfism syndrome, and when acquired somatically, it contributes to carcinogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1104782.RADq3xGocWm__5FvebwxZnqLEfaWRyxrXjNMFNjxAHtYc130_provenance.