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- source_evidence_literature type ECO_0000212 NP977641.RAmYAhmGw_t9ibiVOjeDYHDgtPNTAjt4q4luoLHtKg3zQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP977641.RAmYAhmGw_t9ibiVOjeDYHDgtPNTAjt4q4luoLHtKg3zQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP977641.RAmYAhmGw_t9ibiVOjeDYHDgtPNTAjt4q4luoLHtKg3zQ130_provenance.
- NP977641.RAmYAhmGw_t9ibiVOjeDYHDgtPNTAjt4q4luoLHtKg3zQ130_assertion description "[We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP977641.RAmYAhmGw_t9ibiVOjeDYHDgtPNTAjt4q4luoLHtKg3zQ130_provenance.
- NP977641.RAmYAhmGw_t9ibiVOjeDYHDgtPNTAjt4q4luoLHtKg3zQ130_assertion evidence source_evidence_literature NP977641.RAmYAhmGw_t9ibiVOjeDYHDgtPNTAjt4q4luoLHtKg3zQ130_provenance.
- NP977641.RAmYAhmGw_t9ibiVOjeDYHDgtPNTAjt4q4luoLHtKg3zQ130_assertion SIO_000772 21044901 NP977641.RAmYAhmGw_t9ibiVOjeDYHDgtPNTAjt4q4luoLHtKg3zQ130_provenance.
- NP977641.RAmYAhmGw_t9ibiVOjeDYHDgtPNTAjt4q4luoLHtKg3zQ130_assertion wasDerivedFrom befree-20150227 NP977641.RAmYAhmGw_t9ibiVOjeDYHDgtPNTAjt4q4luoLHtKg3zQ130_provenance.
- NP977641.RAmYAhmGw_t9ibiVOjeDYHDgtPNTAjt4q4luoLHtKg3zQ130_assertion wasGeneratedBy ECO_0000203 NP977641.RAmYAhmGw_t9ibiVOjeDYHDgtPNTAjt4q4luoLHtKg3zQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP977641.RAmYAhmGw_t9ibiVOjeDYHDgtPNTAjt4q4luoLHtKg3zQ130_provenance.