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- source_evidence_literature type ECO_0000212 NP470133.RAJjUFE3juPCoEUdQm7rS3V7DZDqtK5T-NbpukYlgi_wM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP470133.RAJjUFE3juPCoEUdQm7rS3V7DZDqtK5T-NbpukYlgi_wM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP470133.RAJjUFE3juPCoEUdQm7rS3V7DZDqtK5T-NbpukYlgi_wM130_provenance.
- befree-2016 importedOn "2016-02-19" NP470133.RAJjUFE3juPCoEUdQm7rS3V7DZDqtK5T-NbpukYlgi_wM130_provenance.
- NP470133.RAJjUFE3juPCoEUdQm7rS3V7DZDqtK5T-NbpukYlgi_wM130_assertion wasGeneratedBy ECO_0000203 NP470133.RAJjUFE3juPCoEUdQm7rS3V7DZDqtK5T-NbpukYlgi_wM130_provenance.
- NP470133.RAJjUFE3juPCoEUdQm7rS3V7DZDqtK5T-NbpukYlgi_wM130_assertion wasDerivedFrom befree-2016 NP470133.RAJjUFE3juPCoEUdQm7rS3V7DZDqtK5T-NbpukYlgi_wM130_provenance.
- NP470133.RAJjUFE3juPCoEUdQm7rS3V7DZDqtK5T-NbpukYlgi_wM130_assertion SIO_000772 15563506 NP470133.RAJjUFE3juPCoEUdQm7rS3V7DZDqtK5T-NbpukYlgi_wM130_provenance.
- NP470133.RAJjUFE3juPCoEUdQm7rS3V7DZDqtK5T-NbpukYlgi_wM130_assertion evidence source_evidence_literature NP470133.RAJjUFE3juPCoEUdQm7rS3V7DZDqtK5T-NbpukYlgi_wM130_provenance.
- NP470133.RAJjUFE3juPCoEUdQm7rS3V7DZDqtK5T-NbpukYlgi_wM130_assertion description "[Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP470133.RAJjUFE3juPCoEUdQm7rS3V7DZDqtK5T-NbpukYlgi_wM130_provenance.