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Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID

机译：在ASD和/或ID个体中鉴定出的SHANK3终止突变的表型和功能分析

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Daniela M Cochoy; Alexander Kolevzon; Yuji Kajiwara; Michael Schoen; Maria Pascual-Lucas; Stacey Lurie; Joseph D Buxbaum; Tobias M Boeckers; Michael J Schmeisser;
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1. Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID [J] . Daniela M Cochoy, Alexander Kolevzon, Yuji Kajiwara, Molecular Autism . 2015,第1期

机译：在具有ASD和/或ID的个体中鉴定出的SHANK3终止突变的表型和功能分析
2. Identifying Functionally Important Mutations from Phenotypically Diverse Sequence Data [J] . Kyle Jensen, Hal Alper, Curt Fischer, Applied and Environmental Microbiology . 2006,第5期

机译：从表型多样的序列数据中识别功能上重要的突变
3. Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish [J] . Barbara J. Ruef, Christopher J. Mungall, Cynthia Smith, Disease models & mechanisms: DMM . 2013,第2期

机译：人类，小鼠和斑马鱼单基因突变的跨物种计算分析揭示了单个基因对CNV致病性的表型重叠
4. RUNX2/CBFA1 Mutations in Cleidocranial Dysplasia: Phenotypic and Structure/Function Correlations [C] . Kim McBride, Dobrawa Napierala, Yuqing Chen, Falk Symposium . 2002

机译：Cleidocanial dysplasia中的Runx2 / CBFA1突变：表型和结构/功能相关性
5. DYRK1A Haploinsufficiency as a Subtype of ASD: Phenotypic Presentation and the Role of Parental Phenotype in Accounting for Variability in Individuals with ASD and Disruptive DYRK1A Mutations [D] . Earl, Rachel Kincade. 2018

机译：Dyrk1a Haploinfcuity作为ASD的亚型：表型呈现和父母表型在核查中核算中的变异性和破坏性Dyrk1a突变的作用
6. Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID [O] . Daniela M Cochoy, Alexander Kolevzon, Yuji Kajiwara, 2015

机译：在ASD和/或ID个体中鉴定出的SHANK3终止突变的表型和功能分析
7. Identifying Functionally Important Mutations from Phenotypically Diverse Sequence Data [O] . Jensen, Kyle, Alper, Hal, Fischer, Curt, 2006

机译：从表型多样的序列数据中识别功能上重要的突变

Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID

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