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- source_evidence_literature type ECO_0000212 NP680848.RAnNdpbnLEzB83EEtf-B70C3nBVS3QswXfE9m53IqVAGE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP680848.RAnNdpbnLEzB83EEtf-B70C3nBVS3QswXfE9m53IqVAGE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP680848.RAnNdpbnLEzB83EEtf-B70C3nBVS3QswXfE9m53IqVAGE130_provenance.
- NP680848.RAnNdpbnLEzB83EEtf-B70C3nBVS3QswXfE9m53IqVAGE130_assertion description "[This study describes a novel ADVIRC mutation and show that it disrupts an exonic splice enhancer (ESE) site, altering the binding of a splicing-associated SR protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP680848.RAnNdpbnLEzB83EEtf-B70C3nBVS3QswXfE9m53IqVAGE130_provenance.
- NP680848.RAnNdpbnLEzB83EEtf-B70C3nBVS3QswXfE9m53IqVAGE130_assertion evidence source_evidence_literature NP680848.RAnNdpbnLEzB83EEtf-B70C3nBVS3QswXfE9m53IqVAGE130_provenance.
- NP680848.RAnNdpbnLEzB83EEtf-B70C3nBVS3QswXfE9m53IqVAGE130_assertion SIO_000772 18611979 NP680848.RAnNdpbnLEzB83EEtf-B70C3nBVS3QswXfE9m53IqVAGE130_provenance.
- NP680848.RAnNdpbnLEzB83EEtf-B70C3nBVS3QswXfE9m53IqVAGE130_assertion wasDerivedFrom befree-2016 NP680848.RAnNdpbnLEzB83EEtf-B70C3nBVS3QswXfE9m53IqVAGE130_provenance.
- NP680848.RAnNdpbnLEzB83EEtf-B70C3nBVS3QswXfE9m53IqVAGE130_assertion wasGeneratedBy ECO_0000203 NP680848.RAnNdpbnLEzB83EEtf-B70C3nBVS3QswXfE9m53IqVAGE130_provenance.
- befree-2016 importedOn "2016-02-19" NP680848.RAnNdpbnLEzB83EEtf-B70C3nBVS3QswXfE9m53IqVAGE130_provenance.