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- source_evidence_literature type ECO_0000212 NP487337.RAkZOIMI5lA5xEUkAwY11eaL_aZTuVdcEpLct3tb6N9eU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP487337.RAkZOIMI5lA5xEUkAwY11eaL_aZTuVdcEpLct3tb6N9eU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP487337.RAkZOIMI5lA5xEUkAwY11eaL_aZTuVdcEpLct3tb6N9eU130_provenance.
- befree-2016 importedOn "2016-02-19" NP487337.RAkZOIMI5lA5xEUkAwY11eaL_aZTuVdcEpLct3tb6N9eU130_provenance.
- NP487337.RAkZOIMI5lA5xEUkAwY11eaL_aZTuVdcEpLct3tb6N9eU130_assertion wasGeneratedBy ECO_0000203 NP487337.RAkZOIMI5lA5xEUkAwY11eaL_aZTuVdcEpLct3tb6N9eU130_provenance.
- NP487337.RAkZOIMI5lA5xEUkAwY11eaL_aZTuVdcEpLct3tb6N9eU130_assertion wasDerivedFrom befree-2016 NP487337.RAkZOIMI5lA5xEUkAwY11eaL_aZTuVdcEpLct3tb6N9eU130_provenance.
- NP487337.RAkZOIMI5lA5xEUkAwY11eaL_aZTuVdcEpLct3tb6N9eU130_assertion SIO_000772 15792865 NP487337.RAkZOIMI5lA5xEUkAwY11eaL_aZTuVdcEpLct3tb6N9eU130_provenance.
- NP487337.RAkZOIMI5lA5xEUkAwY11eaL_aZTuVdcEpLct3tb6N9eU130_assertion evidence source_evidence_literature NP487337.RAkZOIMI5lA5xEUkAwY11eaL_aZTuVdcEpLct3tb6N9eU130_provenance.
- NP487337.RAkZOIMI5lA5xEUkAwY11eaL_aZTuVdcEpLct3tb6N9eU130_assertion description "[Mutations of the protein O-mannosyltransferase (POMT1) gene affect glycosylation of alpha-dystroglycan, leading to Walker-Warburg syndrome, a lethal disorder in early life with severe congenital muscular dystrophy, and brain and eye malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP487337.RAkZOIMI5lA5xEUkAwY11eaL_aZTuVdcEpLct3tb6N9eU130_provenance.