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Gaucher mutation N188S is associated with myoclonic epilepsy.
Kowarz L, Goker-Alpan O, Banerjee-Basu S, LaMarca ME, Kinlaw L, Schiffmann R, Baxevanis AD, Sidransky E. Kowarz L, et al. Among authors: baxevanis ad. Hum Mutat. 2005 Sep;26(3):271-3; author reply 274-5. doi: 10.1002/humu.20217. Hum Mutat. 2005. PMID: 16086325
The ENCODEdb portal: simplified access to ENCODE Consortium data.
Elnitski LL, Shah P, Moreland RT, Umayam L, Wolfsberg TG, Baxevanis AD. Elnitski LL, et al. Among authors: baxevanis ad. Genome Res. 2007 Jun;17(6):954-9. doi: 10.1101/gr.5582207. Genome Res. 2007. PMID: 17568011 Free PMC article.
145 results