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- source_evidence_literature type ECO_0000212 NP977700.RAXuxu-KRWLnevDd3NOSvFN90JTF1GYh5e3ix3be2g4-U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP977700.RAXuxu-KRWLnevDd3NOSvFN90JTF1GYh5e3ix3be2g4-U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP977700.RAXuxu-KRWLnevDd3NOSvFN90JTF1GYh5e3ix3be2g4-U130_provenance.
- befree-20150227 importedOn "2015-02-27" NP977700.RAXuxu-KRWLnevDd3NOSvFN90JTF1GYh5e3ix3be2g4-U130_provenance.
- NP977700.RAXuxu-KRWLnevDd3NOSvFN90JTF1GYh5e3ix3be2g4-U130_assertion wasGeneratedBy ECO_0000203 NP977700.RAXuxu-KRWLnevDd3NOSvFN90JTF1GYh5e3ix3be2g4-U130_provenance.
- NP977700.RAXuxu-KRWLnevDd3NOSvFN90JTF1GYh5e3ix3be2g4-U130_assertion wasDerivedFrom befree-20150227 NP977700.RAXuxu-KRWLnevDd3NOSvFN90JTF1GYh5e3ix3be2g4-U130_provenance.
- NP977700.RAXuxu-KRWLnevDd3NOSvFN90JTF1GYh5e3ix3be2g4-U130_assertion SIO_000772 17546029 NP977700.RAXuxu-KRWLnevDd3NOSvFN90JTF1GYh5e3ix3be2g4-U130_provenance.
- NP977700.RAXuxu-KRWLnevDd3NOSvFN90JTF1GYh5e3ix3be2g4-U130_assertion evidence source_evidence_literature NP977700.RAXuxu-KRWLnevDd3NOSvFN90JTF1GYh5e3ix3be2g4-U130_provenance.
- NP977700.RAXuxu-KRWLnevDd3NOSvFN90JTF1GYh5e3ix3be2g4-U130_assertion description "[We detected homozygous nonsense and frameshift mutations in LCA5 in five families affected with LCA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP977700.RAXuxu-KRWLnevDd3NOSvFN90JTF1GYh5e3ix3be2g4-U130_provenance.