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- source_evidence_literature type ECO_0000212 NP521014.RAN8X-fpv9YIiCqgj65aN9k2YUykgOTRWD6tqwnXW9YJc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP521014.RAN8X-fpv9YIiCqgj65aN9k2YUykgOTRWD6tqwnXW9YJc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP521014.RAN8X-fpv9YIiCqgj65aN9k2YUykgOTRWD6tqwnXW9YJc130_provenance.
- NP521014.RAN8X-fpv9YIiCqgj65aN9k2YUykgOTRWD6tqwnXW9YJc130_assertion description "[Restudy of the original DFN-1 family showed that the deafness is part of a progressive X linked recessive syndrome, which includes visual disability leading to cortical blindness, dystonia, fractures, and mental deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP521014.RAN8X-fpv9YIiCqgj65aN9k2YUykgOTRWD6tqwnXW9YJc130_provenance.
- NP521014.RAN8X-fpv9YIiCqgj65aN9k2YUykgOTRWD6tqwnXW9YJc130_assertion evidence source_evidence_literature NP521014.RAN8X-fpv9YIiCqgj65aN9k2YUykgOTRWD6tqwnXW9YJc130_provenance.
- NP521014.RAN8X-fpv9YIiCqgj65aN9k2YUykgOTRWD6tqwnXW9YJc130_assertion SIO_000772 7643352 NP521014.RAN8X-fpv9YIiCqgj65aN9k2YUykgOTRWD6tqwnXW9YJc130_provenance.
- NP521014.RAN8X-fpv9YIiCqgj65aN9k2YUykgOTRWD6tqwnXW9YJc130_assertion wasDerivedFrom befree-20140225 NP521014.RAN8X-fpv9YIiCqgj65aN9k2YUykgOTRWD6tqwnXW9YJc130_provenance.
- NP521014.RAN8X-fpv9YIiCqgj65aN9k2YUykgOTRWD6tqwnXW9YJc130_assertion wasGeneratedBy ECO_0000203 NP521014.RAN8X-fpv9YIiCqgj65aN9k2YUykgOTRWD6tqwnXW9YJc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP521014.RAN8X-fpv9YIiCqgj65aN9k2YUykgOTRWD6tqwnXW9YJc130_provenance.