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Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report

机译：新的Pak3基因密码变异与两种中国兄弟姐妹有智力残疾：案例报告

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Yanyan Qian; Bingbing Wu; Yulan Lu; Wenhao Zhou; Sujuan Wang; Huijun Wang;
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1. Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report [J] . Yanyan Qian, Bingbing Wu, Yulan Lu, BMC Medical Genetics . 2020,第1期

机译：新的Pak3基因密码变异与两种中国兄弟姐妹有智力残疾：案例报告
2. A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report [J] . Giada Moresco, Jole Costanza, Carlo Santaniello, Italian journal of pediatrics . 2021,第1期

机译：患有Brachycephaly和知识分子疾病的女性的新型Novo DDX3X畸发变种：案例报告
3. Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration [J] . Iqbal Zafar, Puettmann Lucia, Musante Luciana, European journal of human genetics: EJHG . 2016,第3期

机译：AIMP1基因的错义变异涉及常染色体隐性智力障碍而无神经退行性变
4. The Influence of Father Involvement and Sibling Relationship Toward Social Skill of Siblings of Intellectual Disability [C] . Indira Wulandari Pratiwi, Neneng Tati Sumiati International Conference on Diversity and Disability Inclusion in Muslim Societies . 2018

机译：父亲参与和兄弟姐妹关系对智障障碍兄弟姐妹社会技能的影响
5. Phenotypes and Variants in Cases Submitted for X-Linked Intellectual Disability (XLID) Gene Panel Testing. [D] . Hill-Harfe, Katherine Leigh. 2014

机译：为X连锁智力障碍（XLID）基因面板测试提交的病例中的表型和变异形式。
6. Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report [O] . Yanyan Qian, Bingbing Wu, Yulan Lu, 2020

机译：与两名中国智障兄弟姐妹相关的新型PAK3基因错义变异：病例报告
7. A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature [O] . Aritoshi Iida, Kyoko Takano, Eri Takeshita, 2019

机译：来自日本家庭的两种兄弟姐妹的一种新的PAK3致病变异，具有X联系的智力残疾：案例报告和审查文献

Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report

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