Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP434534.RAKWc_o_Pciv5k7_wnIBuSjJcmuS7NP3EXIfKxWgq0aRg130_assertion> ?p ?o ?g. }
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- NP434534.RAKWc_o_Pciv5k7_wnIBuSjJcmuS7NP3EXIfKxWgq0aRg130_assertion type Assertion NP434534.RAKWc_o_Pciv5k7_wnIBuSjJcmuS7NP3EXIfKxWgq0aRg130_head.
- NP434534.RAKWc_o_Pciv5k7_wnIBuSjJcmuS7NP3EXIfKxWgq0aRg130_assertion description "[Whole-exome sequencing with a trio analysis (affected child compared to unaffected parents) was performed and identified a novel de novo missense mutation in GRIN2A, c.2449A>G, p.Met817Val, as the likely cause of the refractory epilepsy and global developmental delay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP434534.RAKWc_o_Pciv5k7_wnIBuSjJcmuS7NP3EXIfKxWgq0aRg130_provenance.
- NP434534.RAKWc_o_Pciv5k7_wnIBuSjJcmuS7NP3EXIfKxWgq0aRg130_assertion evidence source_evidence_literature NP434534.RAKWc_o_Pciv5k7_wnIBuSjJcmuS7NP3EXIfKxWgq0aRg130_provenance.
- NP434534.RAKWc_o_Pciv5k7_wnIBuSjJcmuS7NP3EXIfKxWgq0aRg130_assertion SIO_000772 24903190 NP434534.RAKWc_o_Pciv5k7_wnIBuSjJcmuS7NP3EXIfKxWgq0aRg130_provenance.
- NP434534.RAKWc_o_Pciv5k7_wnIBuSjJcmuS7NP3EXIfKxWgq0aRg130_assertion wasDerivedFrom befree-20150227 NP434534.RAKWc_o_Pciv5k7_wnIBuSjJcmuS7NP3EXIfKxWgq0aRg130_provenance.
- NP434534.RAKWc_o_Pciv5k7_wnIBuSjJcmuS7NP3EXIfKxWgq0aRg130_assertion wasGeneratedBy ECO_0000203 NP434534.RAKWc_o_Pciv5k7_wnIBuSjJcmuS7NP3EXIfKxWgq0aRg130_provenance.