Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1070062.RAWfy7bBa4pdeYq8GVoQDSD-6eQdjFkPmgDki27F0Nq24130_assertion> ?p ?o ?g. }
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- NP1070062.RAWfy7bBa4pdeYq8GVoQDSD-6eQdjFkPmgDki27F0Nq24130_assertion type Assertion NP1070062.RAWfy7bBa4pdeYq8GVoQDSD-6eQdjFkPmgDki27F0Nq24130_head.
- NP1070062.RAWfy7bBa4pdeYq8GVoQDSD-6eQdjFkPmgDki27F0Nq24130_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." NP1070062.RAWfy7bBa4pdeYq8GVoQDSD-6eQdjFkPmgDki27F0Nq24130_provenance.
- NP1070062.RAWfy7bBa4pdeYq8GVoQDSD-6eQdjFkPmgDki27F0Nq24130_assertion evidence source_evidence_literature NP1070062.RAWfy7bBa4pdeYq8GVoQDSD-6eQdjFkPmgDki27F0Nq24130_provenance.
- NP1070062.RAWfy7bBa4pdeYq8GVoQDSD-6eQdjFkPmgDki27F0Nq24130_assertion SIO_000772 23592921 NP1070062.RAWfy7bBa4pdeYq8GVoQDSD-6eQdjFkPmgDki27F0Nq24130_provenance.
- NP1070062.RAWfy7bBa4pdeYq8GVoQDSD-6eQdjFkPmgDki27F0Nq24130_assertion wasDerivedFrom befree-2016 NP1070062.RAWfy7bBa4pdeYq8GVoQDSD-6eQdjFkPmgDki27F0Nq24130_provenance.
- NP1070062.RAWfy7bBa4pdeYq8GVoQDSD-6eQdjFkPmgDki27F0Nq24130_assertion wasGeneratedBy ECO_0000203 NP1070062.RAWfy7bBa4pdeYq8GVoQDSD-6eQdjFkPmgDki27F0Nq24130_provenance.