Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP615054.RA4_wEqdUN9Y5a3yhQa8dzcBIre-b9hnlrJ9-cRb0yGIE130_assertion> ?p ?o ?g. }
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- NP615054.RA4_wEqdUN9Y5a3yhQa8dzcBIre-b9hnlrJ9-cRb0yGIE130_assertion type Assertion NP615054.RA4_wEqdUN9Y5a3yhQa8dzcBIre-b9hnlrJ9-cRb0yGIE130_head.
- NP615054.RA4_wEqdUN9Y5a3yhQa8dzcBIre-b9hnlrJ9-cRb0yGIE130_assertion description "[After screening for mutations in PAX6, CYP1B1, and FOXC1, a novel FOXC1 W152G mutation was identified in a newborn boy with aniridia and congenital glaucoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP615054.RA4_wEqdUN9Y5a3yhQa8dzcBIre-b9hnlrJ9-cRb0yGIE130_provenance.
- NP615054.RA4_wEqdUN9Y5a3yhQa8dzcBIre-b9hnlrJ9-cRb0yGIE130_assertion evidence source_evidence_literature NP615054.RA4_wEqdUN9Y5a3yhQa8dzcBIre-b9hnlrJ9-cRb0yGIE130_provenance.
- NP615054.RA4_wEqdUN9Y5a3yhQa8dzcBIre-b9hnlrJ9-cRb0yGIE130_assertion SIO_000772 19279310 NP615054.RA4_wEqdUN9Y5a3yhQa8dzcBIre-b9hnlrJ9-cRb0yGIE130_provenance.
- NP615054.RA4_wEqdUN9Y5a3yhQa8dzcBIre-b9hnlrJ9-cRb0yGIE130_assertion wasDerivedFrom befree-20140225 NP615054.RA4_wEqdUN9Y5a3yhQa8dzcBIre-b9hnlrJ9-cRb0yGIE130_provenance.
- NP615054.RA4_wEqdUN9Y5a3yhQa8dzcBIre-b9hnlrJ9-cRb0yGIE130_assertion wasGeneratedBy ECO_0000203 NP615054.RA4_wEqdUN9Y5a3yhQa8dzcBIre-b9hnlrJ9-cRb0yGIE130_provenance.