Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP487337.RAkZOIMI5lA5xEUkAwY11eaL_aZTuVdcEpLct3tb6N9eU130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP487337.RAkZOIMI5lA5xEUkAwY11eaL_aZTuVdcEpLct3tb6N9eU130_assertion type Assertion NP487337.RAkZOIMI5lA5xEUkAwY11eaL_aZTuVdcEpLct3tb6N9eU130_head.
- 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.