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- source_evidence_literature type ECO_0000212 NP1346517.RAV5u6BOI6wpLXLlQ8E9yznpUJLIOYeF-jVnJcWub5LDc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1346517.RAV5u6BOI6wpLXLlQ8E9yznpUJLIOYeF-jVnJcWub5LDc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1346517.RAV5u6BOI6wpLXLlQ8E9yznpUJLIOYeF-jVnJcWub5LDc130_provenance.
- NP1346517.RAV5u6BOI6wpLXLlQ8E9yznpUJLIOYeF-jVnJcWub5LDc130_assertion description "[Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1346517.RAV5u6BOI6wpLXLlQ8E9yznpUJLIOYeF-jVnJcWub5LDc130_provenance.
- NP1346517.RAV5u6BOI6wpLXLlQ8E9yznpUJLIOYeF-jVnJcWub5LDc130_assertion evidence source_evidence_literature NP1346517.RAV5u6BOI6wpLXLlQ8E9yznpUJLIOYeF-jVnJcWub5LDc130_provenance.
- NP1346517.RAV5u6BOI6wpLXLlQ8E9yznpUJLIOYeF-jVnJcWub5LDc130_assertion SIO_000772 8580427 NP1346517.RAV5u6BOI6wpLXLlQ8E9yznpUJLIOYeF-jVnJcWub5LDc130_provenance.
- NP1346517.RAV5u6BOI6wpLXLlQ8E9yznpUJLIOYeF-jVnJcWub5LDc130_assertion wasDerivedFrom befree-2016 NP1346517.RAV5u6BOI6wpLXLlQ8E9yznpUJLIOYeF-jVnJcWub5LDc130_provenance.
- NP1346517.RAV5u6BOI6wpLXLlQ8E9yznpUJLIOYeF-jVnJcWub5LDc130_assertion wasGeneratedBy ECO_0000203 NP1346517.RAV5u6BOI6wpLXLlQ8E9yznpUJLIOYeF-jVnJcWub5LDc130_provenance.
- befree-2016 importedOn "2016-02-19" NP1346517.RAV5u6BOI6wpLXLlQ8E9yznpUJLIOYeF-jVnJcWub5LDc130_provenance.