Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_assertion> ?p ?o ?g. }
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- NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_assertion type Assertion NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_head.
- NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_assertion description "[Considering that inclusions of lipofuscin-like substances are observed in retinal pigmentary cells of patients with Stargardt's disease on the one hand, and that the early symptoms of neuronal ceroid lipofuscinosis (CLN3) are suggestive of Stargardt's disease on the other hand (age of loss of visual acuity, appearance of the fundus), we decided to test allelism of Stargardt's disease with the infantile (CLN1) and juvenile forms of neuronal ceroid lipofuscinosis (CLN3), which map to chromosomes 1p32 and 16p12-p11 respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_provenance.
- NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_assertion evidence source_evidence_literature NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_provenance.
- NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_assertion SIO_000772 8014971 NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_provenance.
- NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_assertion wasDerivedFrom befree-20140225 NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_provenance.
- NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_assertion wasGeneratedBy ECO_0000203 NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_provenance.