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- source_evidence_literature type ECO_0000212 NP1402825.RAtf7V4PFmsUdR7k7LL1Dkj5js-N2gdm1XBXyg1cPxh-k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1402825.RAtf7V4PFmsUdR7k7LL1Dkj5js-N2gdm1XBXyg1cPxh-k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1402825.RAtf7V4PFmsUdR7k7LL1Dkj5js-N2gdm1XBXyg1cPxh-k130_provenance.
- NP1402825.RAtf7V4PFmsUdR7k7LL1Dkj5js-N2gdm1XBXyg1cPxh-k130_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." NP1402825.RAtf7V4PFmsUdR7k7LL1Dkj5js-N2gdm1XBXyg1cPxh-k130_provenance.
- NP1402825.RAtf7V4PFmsUdR7k7LL1Dkj5js-N2gdm1XBXyg1cPxh-k130_assertion evidence source_evidence_literature NP1402825.RAtf7V4PFmsUdR7k7LL1Dkj5js-N2gdm1XBXyg1cPxh-k130_provenance.
- NP1402825.RAtf7V4PFmsUdR7k7LL1Dkj5js-N2gdm1XBXyg1cPxh-k130_assertion SIO_000772 9719369 NP1402825.RAtf7V4PFmsUdR7k7LL1Dkj5js-N2gdm1XBXyg1cPxh-k130_provenance.
- NP1402825.RAtf7V4PFmsUdR7k7LL1Dkj5js-N2gdm1XBXyg1cPxh-k130_assertion wasDerivedFrom befree-2016 NP1402825.RAtf7V4PFmsUdR7k7LL1Dkj5js-N2gdm1XBXyg1cPxh-k130_provenance.
- NP1402825.RAtf7V4PFmsUdR7k7LL1Dkj5js-N2gdm1XBXyg1cPxh-k130_assertion wasGeneratedBy ECO_0000203 NP1402825.RAtf7V4PFmsUdR7k7LL1Dkj5js-N2gdm1XBXyg1cPxh-k130_provenance.
- befree-2016 importedOn "2016-02-19" NP1402825.RAtf7V4PFmsUdR7k7LL1Dkj5js-N2gdm1XBXyg1cPxh-k130_provenance.