Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP852068.RABZ1Pf8xtoLm5aqD2obfIIY42E8PoIItFU-TW7EYa21s130_assertion> ?p ?o ?g. }
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- NP852068.RABZ1Pf8xtoLm5aqD2obfIIY42E8PoIItFU-TW7EYa21s130_assertion type Assertion NP852068.RABZ1Pf8xtoLm5aqD2obfIIY42E8PoIItFU-TW7EYa21s130_head.
- NP852068.RABZ1Pf8xtoLm5aqD2obfIIY42E8PoIItFU-TW7EYa21s130_assertion description "[We have therefore assessed the entire coding region of IMPG1 by exon amplification and subsequent single stranded conformational analysis in patients from 6q linked multigeneration families diagnosed with PBCRA and MCDR1, as well as a single patient from an autosomal dominant STGD pedigree unlinked to either of the two known STGD2 and STGD3 loci on chromosomes 13q and 6q, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP852068.RABZ1Pf8xtoLm5aqD2obfIIY42E8PoIItFU-TW7EYa21s130_provenance.
- NP852068.RABZ1Pf8xtoLm5aqD2obfIIY42E8PoIItFU-TW7EYa21s130_assertion evidence source_evidence_literature NP852068.RABZ1Pf8xtoLm5aqD2obfIIY42E8PoIItFU-TW7EYa21s130_provenance.
- NP852068.RABZ1Pf8xtoLm5aqD2obfIIY42E8PoIItFU-TW7EYa21s130_assertion SIO_000772 9719369 NP852068.RABZ1Pf8xtoLm5aqD2obfIIY42E8PoIItFU-TW7EYa21s130_provenance.
- NP852068.RABZ1Pf8xtoLm5aqD2obfIIY42E8PoIItFU-TW7EYa21s130_assertion wasDerivedFrom befree-20140225 NP852068.RABZ1Pf8xtoLm5aqD2obfIIY42E8PoIItFU-TW7EYa21s130_provenance.
- NP852068.RABZ1Pf8xtoLm5aqD2obfIIY42E8PoIItFU-TW7EYa21s130_assertion wasGeneratedBy ECO_0000203 NP852068.RABZ1Pf8xtoLm5aqD2obfIIY42E8PoIItFU-TW7EYa21s130_provenance.