Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP290470.RAEyq2mOQplw1dJNajzHcwHdVoyi9WJhMFQC-dasZmaLs130_assertion> ?p ?o ?g. }
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- NP290470.RAEyq2mOQplw1dJNajzHcwHdVoyi9WJhMFQC-dasZmaLs130_assertion type Assertion NP290470.RAEyq2mOQplw1dJNajzHcwHdVoyi9WJhMFQC-dasZmaLs130_head.
- NP290470.RAEyq2mOQplw1dJNajzHcwHdVoyi9WJhMFQC-dasZmaLs130_assertion description "[Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP290470.RAEyq2mOQplw1dJNajzHcwHdVoyi9WJhMFQC-dasZmaLs130_provenance.
- NP290470.RAEyq2mOQplw1dJNajzHcwHdVoyi9WJhMFQC-dasZmaLs130_assertion evidence source_evidence_literature NP290470.RAEyq2mOQplw1dJNajzHcwHdVoyi9WJhMFQC-dasZmaLs130_provenance.
- NP290470.RAEyq2mOQplw1dJNajzHcwHdVoyi9WJhMFQC-dasZmaLs130_assertion SIO_000772 10918587 NP290470.RAEyq2mOQplw1dJNajzHcwHdVoyi9WJhMFQC-dasZmaLs130_provenance.
- NP290470.RAEyq2mOQplw1dJNajzHcwHdVoyi9WJhMFQC-dasZmaLs130_assertion wasDerivedFrom befree-2016 NP290470.RAEyq2mOQplw1dJNajzHcwHdVoyi9WJhMFQC-dasZmaLs130_provenance.
- NP290470.RAEyq2mOQplw1dJNajzHcwHdVoyi9WJhMFQC-dasZmaLs130_assertion wasGeneratedBy ECO_0000203 NP290470.RAEyq2mOQplw1dJNajzHcwHdVoyi9WJhMFQC-dasZmaLs130_provenance.