Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP372531.RACTenXG3F0KL1CaRjNSbEejGI9D9ViDGgJ2UoA40Q7HA130_assertion> ?p ?o ?g. }
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- NP372531.RACTenXG3F0KL1CaRjNSbEejGI9D9ViDGgJ2UoA40Q7HA130_assertion type Assertion NP372531.RACTenXG3F0KL1CaRjNSbEejGI9D9ViDGgJ2UoA40Q7HA130_head.
- NP372531.RACTenXG3F0KL1CaRjNSbEejGI9D9ViDGgJ2UoA40Q7HA130_assertion description "[A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP372531.RACTenXG3F0KL1CaRjNSbEejGI9D9ViDGgJ2UoA40Q7HA130_provenance.
- NP372531.RACTenXG3F0KL1CaRjNSbEejGI9D9ViDGgJ2UoA40Q7HA130_assertion evidence source_evidence_literature NP372531.RACTenXG3F0KL1CaRjNSbEejGI9D9ViDGgJ2UoA40Q7HA130_provenance.
- NP372531.RACTenXG3F0KL1CaRjNSbEejGI9D9ViDGgJ2UoA40Q7HA130_assertion SIO_000772 12402266 NP372531.RACTenXG3F0KL1CaRjNSbEejGI9D9ViDGgJ2UoA40Q7HA130_provenance.
- NP372531.RACTenXG3F0KL1CaRjNSbEejGI9D9ViDGgJ2UoA40Q7HA130_assertion wasDerivedFrom befree-2016 NP372531.RACTenXG3F0KL1CaRjNSbEejGI9D9ViDGgJ2UoA40Q7HA130_provenance.
- NP372531.RACTenXG3F0KL1CaRjNSbEejGI9D9ViDGgJ2UoA40Q7HA130_assertion wasGeneratedBy ECO_0000203 NP372531.RACTenXG3F0KL1CaRjNSbEejGI9D9ViDGgJ2UoA40Q7HA130_provenance.