Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- 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." provenance.
- 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." provenance.
- NP1189295.RAkUm9VpSY5MraeMcqOPW_jm0P8SinmvKG_pXfxmVLH60130_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." NP1189295.RAkUm9VpSY5MraeMcqOPW_jm0P8SinmvKG_pXfxmVLH60130_provenance.
- 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.