Concepedia

The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility

Biaobang Chen, Wenjing Wang, Xiandong Peng, Huafeng Jiang, Shaozhen Zhang, Da Li, Bin Li, Jing Fu, Yanping Kuang, Xiaoxi Sun,

European Journal of Human Genetics · 2018 · 105 citations · 12 references

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References

12

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

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Predicting the Functional Effect of Amino Acid Substitutions and Indels

Yongwook Choi, Gregory E. Sims, Sean V. Murphy et al. · PLoS ONE · 2012 · 3K citations · Full text

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PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

Yongwook Choi, Agnes P. Chan · Bioinformatics · 2015 · 2.7K citations · Full text

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Mutations in <i>TUBB8</i> and Human Oocyte Meiotic Arrest

Ruizhi Feng, Qing Sang, Yanping Kuang et al. · New England Journal of Medicine · 2016 · 325 citations · Full text

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Mutations in <i>TUBB8</i> cause a multiplicity of phenotypes in human oocytes and early embryos

Ruizhi Feng, Zheng Yan, Bin Li et al. · Journal of Medical Genetics · 2016 · 164 citations · Full text

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