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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
Progressive myoclonus epilepsies (PMEs) are inherited disorders characterized by myoclonus, generalized tonic-clonic seizures, and ataxia. One of the genes that is associated with PME is the ER-to-Golgi Q(b)-SNARE GOSR2, which forms a SNARE complex with syntaxin-5, Bet1 and Sec22b. Most PME patients...
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| 發表在: | Dis Model Mech |
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| Main Authors: | , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
The Company of Biologists Ltd
2017
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5769602/ https://ncbi.nlm.nih.gov/pubmed/28982678 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.029132 |
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