Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP657189.RAYevEYAaPhFdjuxV7jvbm6S--2ukCoU1QCfPmxMqYVac130_assertion> ?p ?o ?g. }
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- NP657189.RAYevEYAaPhFdjuxV7jvbm6S--2ukCoU1QCfPmxMqYVac130_assertion type Assertion NP657189.RAYevEYAaPhFdjuxV7jvbm6S--2ukCoU1QCfPmxMqYVac130_head.
- NP657189.RAYevEYAaPhFdjuxV7jvbm6S--2ukCoU1QCfPmxMqYVac130_assertion description "[In conclusion, this study shows that the KTS splice site mutation is not specific for Frasier syndrome, but that it can also be found in DDS and in a normal female (XX) with FSGS, a woman who achieved normal pregnancy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP657189.RAYevEYAaPhFdjuxV7jvbm6S--2ukCoU1QCfPmxMqYVac130_provenance.
- NP657189.RAYevEYAaPhFdjuxV7jvbm6S--2ukCoU1QCfPmxMqYVac130_assertion evidence source_evidence_literature NP657189.RAYevEYAaPhFdjuxV7jvbm6S--2ukCoU1QCfPmxMqYVac130_provenance.
- NP657189.RAYevEYAaPhFdjuxV7jvbm6S--2ukCoU1QCfPmxMqYVac130_assertion SIO_000772 10505700 NP657189.RAYevEYAaPhFdjuxV7jvbm6S--2ukCoU1QCfPmxMqYVac130_provenance.
- NP657189.RAYevEYAaPhFdjuxV7jvbm6S--2ukCoU1QCfPmxMqYVac130_assertion wasDerivedFrom befree-20140225 NP657189.RAYevEYAaPhFdjuxV7jvbm6S--2ukCoU1QCfPmxMqYVac130_provenance.
- NP657189.RAYevEYAaPhFdjuxV7jvbm6S--2ukCoU1QCfPmxMqYVac130_assertion wasGeneratedBy ECO_0000203 NP657189.RAYevEYAaPhFdjuxV7jvbm6S--2ukCoU1QCfPmxMqYVac130_provenance.