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Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies.
Völker JM, Dergai M, Abriata LA, Mingard Y, Ysselstein D, Krainc D, Dal Peraro M, Fischer von Mollard G, Fasshauer D, Koliwer J, Schwake M. Völker JM, et al. Among authors: mingard y. Dis Model Mech. 2017 Dec 19;10(12):1391-1398. doi: 10.1242/dmm.029132. Dis Model Mech. 2017. PMID: 28982678 Free PMC article.