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A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature

机译：小型术语的新型杂志畸变突变，具有异常皮质建筑和文学审查

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Melinda Zombor; Tibor Kalmár; Nikoletta Nagy; Marianne Berényi; Borbála Telcs; Zoltán Maróti; Oliver Brandau; László Sztriha;
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1. A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature [J] . Zombor Melinda, Kalmar Tibor, Nagy Nikoletta, Journal of Applied Genetics . 2019,第2期

机译：小型WDR62小型术畸变突变，具有异常皮质建筑和文献综述
2. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. [J] . Yu TW, Mochida GH, Tischfield DJ, Nature Genetics . 2010,第11期

机译：WDR62中的突变编码一种与中心体相关的蛋白，导致小头畸形，具有简化的回旋和异常的皮质结构。
3. WDR62 missense mutation in a consanguineous family with primary microcephaly. [J] . Carlos A Bacino, Luis A Arriola, Joanna Wiszniewska, American journal of medical genetics, Part A . 2012,第3期

机译：患有原发性小头畸形的近亲家庭中的WDR62错义突变。
4. Simulation Study of the Arrhythmogenic Effects of Two Missense Mutations in Human Atrial Fibrillation [C] . Rebecca Belletti, Laura Martinez Mateu, Lucia Romero Pérez, Computing in Cardiology . 2020

机译：两种畸形突变在人心房颤动中的血液发生影响的仿真研究
5. Computational assessment of somatic missense mutations detected in tumor sequencing studies with cancer-specific high-throughput annotation of somatic mutations (CHASM). [D] . Carter, Hannah. 2012

机译：具有肿瘤特异性高通量体细胞突变（CHASM）的肿瘤测序研究中检测到的体细胞错义突变的计算评估。
6. Mutations in WDR62 encoding a centrosome-associated protein cause microcephaly with simplified gyri and abnormal cortical architecture [O] . Timothy W. Yu, Ganeshwaran H. Mochida, David J. Tischfield, -1

机译：突变WDR62小头畸形编码中心体相关蛋白事业简化脑回和皮质结构异常
7. Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation [O] . Farag Heba Gamal, Froehler Sebastian, Oexle Konrad, 2015

机译：由于复合杂合的WDR62基因突变，常染色体隐性原发性小头畸形2型患者的中心体和纺锤体形态异常

A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature

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