Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP601305.RAVqrkVRo7_ReD-Z6OnbDiiU8ZV_7igxzHEcKRfR0BwBs130_assertion> ?p ?o ?g. }
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- NP601305.RAVqrkVRo7_ReD-Z6OnbDiiU8ZV_7igxzHEcKRfR0BwBs130_assertion type Assertion NP601305.RAVqrkVRo7_ReD-Z6OnbDiiU8ZV_7igxzHEcKRfR0BwBs130_head.
- NP601305.RAVqrkVRo7_ReD-Z6OnbDiiU8ZV_7igxzHEcKRfR0BwBs130_assertion description "[We previously characterized the cystinosis gene, CTNS, and identified pathogenic mutations in patients with infantile nephropathic cystinosis, including a common, approximately 65 kb deletion which encompasses exons 1-10.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP601305.RAVqrkVRo7_ReD-Z6OnbDiiU8ZV_7igxzHEcKRfR0BwBs130_provenance.
- NP601305.RAVqrkVRo7_ReD-Z6OnbDiiU8ZV_7igxzHEcKRfR0BwBs130_assertion evidence source_evidence_literature NP601305.RAVqrkVRo7_ReD-Z6OnbDiiU8ZV_7igxzHEcKRfR0BwBs130_provenance.
- NP601305.RAVqrkVRo7_ReD-Z6OnbDiiU8ZV_7igxzHEcKRfR0BwBs130_assertion SIO_000772 10556299 NP601305.RAVqrkVRo7_ReD-Z6OnbDiiU8ZV_7igxzHEcKRfR0BwBs130_provenance.
- NP601305.RAVqrkVRo7_ReD-Z6OnbDiiU8ZV_7igxzHEcKRfR0BwBs130_assertion wasDerivedFrom befree-20140225 NP601305.RAVqrkVRo7_ReD-Z6OnbDiiU8ZV_7igxzHEcKRfR0BwBs130_provenance.
- NP601305.RAVqrkVRo7_ReD-Z6OnbDiiU8ZV_7igxzHEcKRfR0BwBs130_assertion wasGeneratedBy ECO_0000203 NP601305.RAVqrkVRo7_ReD-Z6OnbDiiU8ZV_7igxzHEcKRfR0BwBs130_provenance.