Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_assertion> ?p ?o ?g. }
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- NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_assertion type Assertion NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_head.
- NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_assertion description "[We have identified five different mutations in RAF1 in ten individuals with Noonan syndrome; those with any of four mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy (HCM), whereas affected individuals with mutations leading to changes in the CR3 domain did not.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_provenance.
- NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_assertion evidence source_evidence_curated NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_provenance.
- NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_assertion SIO_000772 17603482 NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_provenance.
- NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_assertion wasDerivedFrom ctd_human-20150221 NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_provenance.
- NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_assertion wasGeneratedBy ECO_0000218 NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_provenance.