Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP410043.RAOv2Ex7IVqYg2z8ubIV--3C9o5RGUkkEvjntfCw_fEZc130_assertion> ?p ?o ?g. }
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- NP410043.RAOv2Ex7IVqYg2z8ubIV--3C9o5RGUkkEvjntfCw_fEZc130_assertion type Assertion NP410043.RAOv2Ex7IVqYg2z8ubIV--3C9o5RGUkkEvjntfCw_fEZc130_head.
- NP410043.RAOv2Ex7IVqYg2z8ubIV--3C9o5RGUkkEvjntfCw_fEZc130_assertion description "[Mutation profiling of positional-candidate genes detected a heterozygous, noncoding G-to-T transversion (c.-168G>T) located in the iron response element (IRE) of the gene coding for ferritin light chain (FTL) that cosegregated with cataract in the family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP410043.RAOv2Ex7IVqYg2z8ubIV--3C9o5RGUkkEvjntfCw_fEZc130_provenance.
- NP410043.RAOv2Ex7IVqYg2z8ubIV--3C9o5RGUkkEvjntfCw_fEZc130_assertion evidence source_evidence_literature NP410043.RAOv2Ex7IVqYg2z8ubIV--3C9o5RGUkkEvjntfCw_fEZc130_provenance.
- NP410043.RAOv2Ex7IVqYg2z8ubIV--3C9o5RGUkkEvjntfCw_fEZc130_assertion SIO_000772 23592921 NP410043.RAOv2Ex7IVqYg2z8ubIV--3C9o5RGUkkEvjntfCw_fEZc130_provenance.
- NP410043.RAOv2Ex7IVqYg2z8ubIV--3C9o5RGUkkEvjntfCw_fEZc130_assertion wasDerivedFrom befree-20140225 NP410043.RAOv2Ex7IVqYg2z8ubIV--3C9o5RGUkkEvjntfCw_fEZc130_provenance.
- NP410043.RAOv2Ex7IVqYg2z8ubIV--3C9o5RGUkkEvjntfCw_fEZc130_assertion wasGeneratedBy ECO_0000203 NP410043.RAOv2Ex7IVqYg2z8ubIV--3C9o5RGUkkEvjntfCw_fEZc130_provenance.