Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP626610.RAfvxq8B61LjF7tFlmb_KFNDQQXPEGL7Nlm8dB-IYDTV0130_assertion> ?p ?o ?g. }
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- NP626610.RAfvxq8B61LjF7tFlmb_KFNDQQXPEGL7Nlm8dB-IYDTV0130_assertion type Assertion NP626610.RAfvxq8B61LjF7tFlmb_KFNDQQXPEGL7Nlm8dB-IYDTV0130_head.
- 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.