Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP193619.RAUwBHmIaJy1eYfeviRa8l0FOIdkvC4vmcBLRi1rZfdt8130_assertion> ?p ?o ?g. }
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- NP193619.RAUwBHmIaJy1eYfeviRa8l0FOIdkvC4vmcBLRi1rZfdt8130_assertion type Assertion NP193619.RAUwBHmIaJy1eYfeviRa8l0FOIdkvC4vmcBLRi1rZfdt8130_head.
- NP193619.RAUwBHmIaJy1eYfeviRa8l0FOIdkvC4vmcBLRi1rZfdt8130_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." NP193619.RAUwBHmIaJy1eYfeviRa8l0FOIdkvC4vmcBLRi1rZfdt8130_provenance.
- NP193619.RAUwBHmIaJy1eYfeviRa8l0FOIdkvC4vmcBLRi1rZfdt8130_assertion evidence source_evidence_literature NP193619.RAUwBHmIaJy1eYfeviRa8l0FOIdkvC4vmcBLRi1rZfdt8130_provenance.
- NP193619.RAUwBHmIaJy1eYfeviRa8l0FOIdkvC4vmcBLRi1rZfdt8130_assertion SIO_000772 18753648 NP193619.RAUwBHmIaJy1eYfeviRa8l0FOIdkvC4vmcBLRi1rZfdt8130_provenance.
- NP193619.RAUwBHmIaJy1eYfeviRa8l0FOIdkvC4vmcBLRi1rZfdt8130_assertion wasDerivedFrom befree-20140225 NP193619.RAUwBHmIaJy1eYfeviRa8l0FOIdkvC4vmcBLRi1rZfdt8130_provenance.
- NP193619.RAUwBHmIaJy1eYfeviRa8l0FOIdkvC4vmcBLRi1rZfdt8130_assertion wasGeneratedBy ECO_0000203 NP193619.RAUwBHmIaJy1eYfeviRa8l0FOIdkvC4vmcBLRi1rZfdt8130_provenance.