Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP718592.RAqBSZBMtBsaP5UI9APiXL5CfcvJXjCYUMNKJPRIKZtm4130_assertion> ?p ?o ?g. }
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- NP718592.RAqBSZBMtBsaP5UI9APiXL5CfcvJXjCYUMNKJPRIKZtm4130_assertion type Assertion NP718592.RAqBSZBMtBsaP5UI9APiXL5CfcvJXjCYUMNKJPRIKZtm4130_head.
- NP718592.RAqBSZBMtBsaP5UI9APiXL5CfcvJXjCYUMNKJPRIKZtm4130_assertion description "[Two distinct mutations, a 5-bp deletion and a complex mutation from the same region in exon 6 of this gene, have been reported so far and are associated with autosomal dominant atrophic macular degeneration (adMD/STGD3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP718592.RAqBSZBMtBsaP5UI9APiXL5CfcvJXjCYUMNKJPRIKZtm4130_provenance.
- NP718592.RAqBSZBMtBsaP5UI9APiXL5CfcvJXjCYUMNKJPRIKZtm4130_assertion evidence source_evidence_literature NP718592.RAqBSZBMtBsaP5UI9APiXL5CfcvJXjCYUMNKJPRIKZtm4130_provenance.
- NP718592.RAqBSZBMtBsaP5UI9APiXL5CfcvJXjCYUMNKJPRIKZtm4130_assertion SIO_000772 15028284 NP718592.RAqBSZBMtBsaP5UI9APiXL5CfcvJXjCYUMNKJPRIKZtm4130_provenance.
- NP718592.RAqBSZBMtBsaP5UI9APiXL5CfcvJXjCYUMNKJPRIKZtm4130_assertion wasDerivedFrom befree-20150227 NP718592.RAqBSZBMtBsaP5UI9APiXL5CfcvJXjCYUMNKJPRIKZtm4130_provenance.
- NP718592.RAqBSZBMtBsaP5UI9APiXL5CfcvJXjCYUMNKJPRIKZtm4130_assertion wasGeneratedBy ECO_0000203 NP718592.RAqBSZBMtBsaP5UI9APiXL5CfcvJXjCYUMNKJPRIKZtm4130_provenance.