Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_assertion> ?p ?o ?g. }
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- NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_assertion type Assertion NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_head.
- NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_assertion description "[Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (POF), has recently been ascribed to mutations in the forkhead transcription factor 2 (FOXL2) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_provenance.
- NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_assertion evidence source_evidence_literature NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_provenance.
- NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_assertion SIO_000772 15450400 NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_provenance.
- NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_assertion wasDerivedFrom befree-2016 NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_provenance.
- NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_assertion wasGeneratedBy ECO_0000203 NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_provenance.