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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

机译：编码辅助钙通道Beta4亚基的CacnB4中的纯合物畸形变种导致严重的神经发育障碍和危险的通道和非渠道功能

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Pierre Coste de Bagneaux; Leonie von Elsner; Tatjana Bierhals; Marta Campiglio; Jessika Johannsen; Gerald J. Obermair; Maja Hempel; Bernhard E. Flucher; Kerstin Kutsche;
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1. A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions [J] . Pierre Coste de Bagneaux, Leonie von Elsner, Tatjana Bierhals, PLoS Genetics . 2020,第3期

机译：<斜视> CaCnB4 编码辅助钙通道Beta4亚基的纯合物的畸形变异导致严重的神经发育障碍和危及通道和非渠道功能
2. Exploring the associations between genetic variants in genes encoding for subunits of calcium channel and subtypes of bipolar disorder [J] . JanW.-C., YangS.-Y., ChuangL.-C., Journal of affective disorders . 2014,第Null期

机译：探索钙通道亚基编码基因的遗传变异与双相情感障碍亚型之间的关联
3. TMEM16A is associated with voltage-gated calcium channels in mouse retina and its function is disrupted upon mutation of the auxiliary α ₂δ ₄ subunit [J] . Antonella Caputo, Ilaria Piano, Gian Carlo Demontis, Frontiers in Cellular Neuroscience . 2015,第2008期

机译：TMEM16A与小鼠视网膜中的电压门控钙通道相关，其功能在辅助α_{2 δ_{4 亚基突变后被破坏}}
4. A Mutation in Cav2.1 Linked to a Severe Neurodevelopmental Disorder Impairs Channel Gating [D] . Tyagi, Sidharth. 2019

机译：与严重的神经发育障碍相关的Cav2.1突变削弱通道门控。
5. A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions [O] . Pierre Coste de Bagneaux, Leonie von Elsner, Tatjana Bierhals, 2020

机译：CACNB4中的纯合错义变体编码辅助钙通道β4亚基导致严重的神经发育障碍损害通道和非通道功能
6. Three Splice Variants of the Calcium Channel Beta4 Subunit Display Differential Targeting and Gene Regulation in Neurons [O] . Etemad Solmaz, Obermair Gerald J., Burtscher Verena, 2014

机译：钙通道β4亚基的三个剪接变体显示差异靶向和神经元中的基因调控。

A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

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