Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP626610.RAfvxq8B61LjF7tFlmb_KFNDQQXPEGL7Nlm8dB-IYDTV0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP626610.RAfvxq8B61LjF7tFlmb_KFNDQQXPEGL7Nlm8dB-IYDTV0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP626610.RAfvxq8B61LjF7tFlmb_KFNDQQXPEGL7Nlm8dB-IYDTV0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP626610.RAfvxq8B61LjF7tFlmb_KFNDQQXPEGL7Nlm8dB-IYDTV0130_provenance.
- NP626610.RAfvxq8B61LjF7tFlmb_KFNDQQXPEGL7Nlm8dB-IYDTV0130_assertion description "[A recurrent 17 bp duplication (c.657ins17bp) of a segment of the paired-like homeodomain transcription factor 3 (PITX3) gene on human chromosome 10 has been reported in seven families with autosomal dominant posterior polar cataracts with or without anterior segment mesenchymal dysgenesis (ASMD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP626610.RAfvxq8B61LjF7tFlmb_KFNDQQXPEGL7Nlm8dB-IYDTV0130_provenance.
- NP626610.RAfvxq8B61LjF7tFlmb_KFNDQQXPEGL7Nlm8dB-IYDTV0130_assertion evidence source_evidence_literature NP626610.RAfvxq8B61LjF7tFlmb_KFNDQQXPEGL7Nlm8dB-IYDTV0130_provenance.
- NP626610.RAfvxq8B61LjF7tFlmb_KFNDQQXPEGL7Nlm8dB-IYDTV0130_assertion SIO_000772 18989383 NP626610.RAfvxq8B61LjF7tFlmb_KFNDQQXPEGL7Nlm8dB-IYDTV0130_provenance.
- NP626610.RAfvxq8B61LjF7tFlmb_KFNDQQXPEGL7Nlm8dB-IYDTV0130_assertion wasDerivedFrom befree-20150227 NP626610.RAfvxq8B61LjF7tFlmb_KFNDQQXPEGL7Nlm8dB-IYDTV0130_provenance.
- NP626610.RAfvxq8B61LjF7tFlmb_KFNDQQXPEGL7Nlm8dB-IYDTV0130_assertion wasGeneratedBy ECO_0000203 NP626610.RAfvxq8B61LjF7tFlmb_KFNDQQXPEGL7Nlm8dB-IYDTV0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP626610.RAfvxq8B61LjF7tFlmb_KFNDQQXPEGL7Nlm8dB-IYDTV0130_provenance.