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- source_evidence_literature type ECO_0000212 NP717667.RABzMWbI2uk7FZMVXwLK57NJ6l4TqmYdHkAh5WJp4xiyY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP717667.RABzMWbI2uk7FZMVXwLK57NJ6l4TqmYdHkAh5WJp4xiyY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP717667.RABzMWbI2uk7FZMVXwLK57NJ6l4TqmYdHkAh5WJp4xiyY130_provenance.
- NP717667.RABzMWbI2uk7FZMVXwLK57NJ6l4TqmYdHkAh5WJp4xiyY130_assertion description "[We demonstrate that the missense mutation impairs DNA binding, suggesting that transcriptional dysregulation may contribute to the phenotype of DYT6 dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP717667.RABzMWbI2uk7FZMVXwLK57NJ6l4TqmYdHkAh5WJp4xiyY130_provenance.
- NP717667.RABzMWbI2uk7FZMVXwLK57NJ6l4TqmYdHkAh5WJp4xiyY130_assertion evidence source_evidence_literature NP717667.RABzMWbI2uk7FZMVXwLK57NJ6l4TqmYdHkAh5WJp4xiyY130_provenance.
- NP717667.RABzMWbI2uk7FZMVXwLK57NJ6l4TqmYdHkAh5WJp4xiyY130_assertion SIO_000772 19182804 NP717667.RABzMWbI2uk7FZMVXwLK57NJ6l4TqmYdHkAh5WJp4xiyY130_provenance.
- NP717667.RABzMWbI2uk7FZMVXwLK57NJ6l4TqmYdHkAh5WJp4xiyY130_assertion wasDerivedFrom befree-2016 NP717667.RABzMWbI2uk7FZMVXwLK57NJ6l4TqmYdHkAh5WJp4xiyY130_provenance.
- NP717667.RABzMWbI2uk7FZMVXwLK57NJ6l4TqmYdHkAh5WJp4xiyY130_assertion wasGeneratedBy ECO_0000203 NP717667.RABzMWbI2uk7FZMVXwLK57NJ6l4TqmYdHkAh5WJp4xiyY130_provenance.
- befree-2016 importedOn "2016-02-19" NP717667.RABzMWbI2uk7FZMVXwLK57NJ6l4TqmYdHkAh5WJp4xiyY130_provenance.