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- source_evidence_literature type ECO_0000212 NP775465.RALhJdl40m-onGE71DIlhrmdapljL2bdua6aYw7aXmXTk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP775465.RALhJdl40m-onGE71DIlhrmdapljL2bdua6aYw7aXmXTk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP775465.RALhJdl40m-onGE71DIlhrmdapljL2bdua6aYw7aXmXTk130_provenance.
- NP775465.RALhJdl40m-onGE71DIlhrmdapljL2bdua6aYw7aXmXTk130_assertion description "[It has been shown previously that ADVIRC results from BEST1 mutations that cause exon skipping and lead to the production of shortened and internally deleted isoforms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP775465.RALhJdl40m-onGE71DIlhrmdapljL2bdua6aYw7aXmXTk130_provenance.
- NP775465.RALhJdl40m-onGE71DIlhrmdapljL2bdua6aYw7aXmXTk130_assertion evidence source_evidence_literature NP775465.RALhJdl40m-onGE71DIlhrmdapljL2bdua6aYw7aXmXTk130_provenance.
- NP775465.RALhJdl40m-onGE71DIlhrmdapljL2bdua6aYw7aXmXTk130_assertion SIO_000772 18611979 NP775465.RALhJdl40m-onGE71DIlhrmdapljL2bdua6aYw7aXmXTk130_provenance.
- NP775465.RALhJdl40m-onGE71DIlhrmdapljL2bdua6aYw7aXmXTk130_assertion wasDerivedFrom befree-20150227 NP775465.RALhJdl40m-onGE71DIlhrmdapljL2bdua6aYw7aXmXTk130_provenance.
- NP775465.RALhJdl40m-onGE71DIlhrmdapljL2bdua6aYw7aXmXTk130_assertion wasGeneratedBy ECO_0000203 NP775465.RALhJdl40m-onGE71DIlhrmdapljL2bdua6aYw7aXmXTk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP775465.RALhJdl40m-onGE71DIlhrmdapljL2bdua6aYw7aXmXTk130_provenance.