Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP636007.RAoHezMRPzGEgyVHrXNz0FKfQAr1F4HIKBJyRR6bBzSHo130_assertion> ?p ?o ?g. }
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- NP636007.RAoHezMRPzGEgyVHrXNz0FKfQAr1F4HIKBJyRR6bBzSHo130_assertion type Assertion NP636007.RAoHezMRPzGEgyVHrXNz0FKfQAr1F4HIKBJyRR6bBzSHo130_head.
- NP636007.RAoHezMRPzGEgyVHrXNz0FKfQAr1F4HIKBJyRR6bBzSHo130_assertion description "[Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome, each associated with eye abnormalities and neuronal migration defects, result from mutations in fukutin, POMGnT1 and POMT1, respectively, while mutations in the fukutin-related protein (FKRP) gene cause congenital muscular dystrophy 1C, typically lacking brain involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP636007.RAoHezMRPzGEgyVHrXNz0FKfQAr1F4HIKBJyRR6bBzSHo130_provenance.
- NP636007.RAoHezMRPzGEgyVHrXNz0FKfQAr1F4HIKBJyRR6bBzSHo130_assertion evidence source_evidence_literature NP636007.RAoHezMRPzGEgyVHrXNz0FKfQAr1F4HIKBJyRR6bBzSHo130_provenance.
- NP636007.RAoHezMRPzGEgyVHrXNz0FKfQAr1F4HIKBJyRR6bBzSHo130_assertion SIO_000772 12966029 NP636007.RAoHezMRPzGEgyVHrXNz0FKfQAr1F4HIKBJyRR6bBzSHo130_provenance.
- NP636007.RAoHezMRPzGEgyVHrXNz0FKfQAr1F4HIKBJyRR6bBzSHo130_assertion wasDerivedFrom befree-20140225 NP636007.RAoHezMRPzGEgyVHrXNz0FKfQAr1F4HIKBJyRR6bBzSHo130_provenance.
- NP636007.RAoHezMRPzGEgyVHrXNz0FKfQAr1F4HIKBJyRR6bBzSHo130_assertion wasGeneratedBy ECO_0000203 NP636007.RAoHezMRPzGEgyVHrXNz0FKfQAr1F4HIKBJyRR6bBzSHo130_provenance.