Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP723440.RAUpMECG6pTvhaUCt0G20k2zHIrP_UzsILY6zJjg8Yw6k130_assertion> ?p ?o ?g. }
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- NP723440.RAUpMECG6pTvhaUCt0G20k2zHIrP_UzsILY6zJjg8Yw6k130_assertion type Assertion NP723440.RAUpMECG6pTvhaUCt0G20k2zHIrP_UzsILY6zJjg8Yw6k130_head.
- NP723440.RAUpMECG6pTvhaUCt0G20k2zHIrP_UzsILY6zJjg8Yw6k130_assertion wasGeneratedBy ECO_0000203 NP723440.RAUpMECG6pTvhaUCt0G20k2zHIrP_UzsILY6zJjg8Yw6k130_provenance.
- NP723440.RAUpMECG6pTvhaUCt0G20k2zHIrP_UzsILY6zJjg8Yw6k130_assertion wasDerivedFrom befree-20150227 NP723440.RAUpMECG6pTvhaUCt0G20k2zHIrP_UzsILY6zJjg8Yw6k130_provenance.
- NP723440.RAUpMECG6pTvhaUCt0G20k2zHIrP_UzsILY6zJjg8Yw6k130_assertion SIO_000772 11933209 NP723440.RAUpMECG6pTvhaUCt0G20k2zHIrP_UzsILY6zJjg8Yw6k130_provenance.
- NP723440.RAUpMECG6pTvhaUCt0G20k2zHIrP_UzsILY6zJjg8Yw6k130_assertion evidence source_evidence_literature NP723440.RAUpMECG6pTvhaUCt0G20k2zHIrP_UzsILY6zJjg8Yw6k130_provenance.
- NP723440.RAUpMECG6pTvhaUCt0G20k2zHIrP_UzsILY6zJjg8Yw6k130_assertion description "[The mutation (1084C>T) changes the amino acid arginine at position 362 to the translation stop codon TGA (R362X) resulting in a predicted truncated protein lacking three of the four zinc finger domains necessary for correct functioning of the gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP723440.RAUpMECG6pTvhaUCt0G20k2zHIrP_UzsILY6zJjg8Yw6k130_provenance.