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- source_evidence_literature type ECO_0000212 NP724939.RAG-P535pLlTvmRvfPEj1DdXGIbmJ4gSU8WQJY9xbyNWE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP724939.RAG-P535pLlTvmRvfPEj1DdXGIbmJ4gSU8WQJY9xbyNWE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP724939.RAG-P535pLlTvmRvfPEj1DdXGIbmJ4gSU8WQJY9xbyNWE130_provenance.
- NP724939.RAG-P535pLlTvmRvfPEj1DdXGIbmJ4gSU8WQJY9xbyNWE130_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." NP724939.RAG-P535pLlTvmRvfPEj1DdXGIbmJ4gSU8WQJY9xbyNWE130_provenance.
- NP724939.RAG-P535pLlTvmRvfPEj1DdXGIbmJ4gSU8WQJY9xbyNWE130_assertion evidence source_evidence_literature NP724939.RAG-P535pLlTvmRvfPEj1DdXGIbmJ4gSU8WQJY9xbyNWE130_provenance.
- NP724939.RAG-P535pLlTvmRvfPEj1DdXGIbmJ4gSU8WQJY9xbyNWE130_assertion SIO_000772 15450400 NP724939.RAG-P535pLlTvmRvfPEj1DdXGIbmJ4gSU8WQJY9xbyNWE130_provenance.
- NP724939.RAG-P535pLlTvmRvfPEj1DdXGIbmJ4gSU8WQJY9xbyNWE130_assertion wasDerivedFrom befree-20150227 NP724939.RAG-P535pLlTvmRvfPEj1DdXGIbmJ4gSU8WQJY9xbyNWE130_provenance.
- NP724939.RAG-P535pLlTvmRvfPEj1DdXGIbmJ4gSU8WQJY9xbyNWE130_assertion wasGeneratedBy ECO_0000203 NP724939.RAG-P535pLlTvmRvfPEj1DdXGIbmJ4gSU8WQJY9xbyNWE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP724939.RAG-P535pLlTvmRvfPEj1DdXGIbmJ4gSU8WQJY9xbyNWE130_provenance.