Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP554002.RAjceSEUlI4q5Ggt88Qat15pCHI6ynH7yTI3Lx7iGAcGI130_assertion> ?p ?o ?g. }
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- NP554002.RAjceSEUlI4q5Ggt88Qat15pCHI6ynH7yTI3Lx7iGAcGI130_assertion type Assertion NP554002.RAjceSEUlI4q5Ggt88Qat15pCHI6ynH7yTI3Lx7iGAcGI130_head.
- NP554002.RAjceSEUlI4q5Ggt88Qat15pCHI6ynH7yTI3Lx7iGAcGI130_assertion description "[KTS (lysine-threonine-serine) splice site mutations in WT1 intron 9 have been described in patients with Frasier syndrome, another rare syndrome defined by focal and segmental glomerulosclerosis (FSGS), XY pseudohermaphroditism, and frequent occurrence of gonadoblastoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP554002.RAjceSEUlI4q5Ggt88Qat15pCHI6ynH7yTI3Lx7iGAcGI130_provenance.
- NP554002.RAjceSEUlI4q5Ggt88Qat15pCHI6ynH7yTI3Lx7iGAcGI130_assertion evidence source_evidence_literature NP554002.RAjceSEUlI4q5Ggt88Qat15pCHI6ynH7yTI3Lx7iGAcGI130_provenance.
- NP554002.RAjceSEUlI4q5Ggt88Qat15pCHI6ynH7yTI3Lx7iGAcGI130_assertion SIO_000772 10505700 NP554002.RAjceSEUlI4q5Ggt88Qat15pCHI6ynH7yTI3Lx7iGAcGI130_provenance.
- NP554002.RAjceSEUlI4q5Ggt88Qat15pCHI6ynH7yTI3Lx7iGAcGI130_assertion wasDerivedFrom befree-20140225 NP554002.RAjceSEUlI4q5Ggt88Qat15pCHI6ynH7yTI3Lx7iGAcGI130_provenance.
- NP554002.RAjceSEUlI4q5Ggt88Qat15pCHI6ynH7yTI3Lx7iGAcGI130_assertion wasGeneratedBy ECO_0000203 NP554002.RAjceSEUlI4q5Ggt88Qat15pCHI6ynH7yTI3Lx7iGAcGI130_provenance.