Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP690190.RA3OTVpREIwzIMRYGxFZLhhjhP4P0f-_ZAv3Wt51hyi2c130_assertion> ?p ?o ?g. }
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- NP690190.RA3OTVpREIwzIMRYGxFZLhhjhP4P0f-_ZAv3Wt51hyi2c130_assertion type Assertion NP690190.RA3OTVpREIwzIMRYGxFZLhhjhP4P0f-_ZAv3Wt51hyi2c130_head.
- NP690190.RA3OTVpREIwzIMRYGxFZLhhjhP4P0f-_ZAv3Wt51hyi2c130_assertion description "[Heterozygous, variably sized, contiguous gene deletions causing haploinsufficiency of the WT1 and PAX6 genes on chromosome 11p13, approximately 4 Mb centromeric to BDNF (11p14.1), result in the Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP690190.RA3OTVpREIwzIMRYGxFZLhhjhP4P0f-_ZAv3Wt51hyi2c130_provenance.
- NP690190.RA3OTVpREIwzIMRYGxFZLhhjhP4P0f-_ZAv3Wt51hyi2c130_assertion evidence source_evidence_literature NP690190.RA3OTVpREIwzIMRYGxFZLhhjhP4P0f-_ZAv3Wt51hyi2c130_provenance.
- NP690190.RA3OTVpREIwzIMRYGxFZLhhjhP4P0f-_ZAv3Wt51hyi2c130_assertion SIO_000772 18753648 NP690190.RA3OTVpREIwzIMRYGxFZLhhjhP4P0f-_ZAv3Wt51hyi2c130_provenance.
- NP690190.RA3OTVpREIwzIMRYGxFZLhhjhP4P0f-_ZAv3Wt51hyi2c130_assertion wasDerivedFrom befree-2016 NP690190.RA3OTVpREIwzIMRYGxFZLhhjhP4P0f-_ZAv3Wt51hyi2c130_provenance.
- NP690190.RA3OTVpREIwzIMRYGxFZLhhjhP4P0f-_ZAv3Wt51hyi2c130_assertion wasGeneratedBy ECO_0000203 NP690190.RA3OTVpREIwzIMRYGxFZLhhjhP4P0f-_ZAv3Wt51hyi2c130_provenance.