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6. Zhu, Haiyan, Chen, Wangyang, Ren, He, Wu, Di, Jiang, Lin. 2021. Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia. In European journal of medical genetics, 64, 104212. doi:10.1016/j.ejmg.2021.104212. https://pubmed.ncbi.nlm.nih.gov/33794348/
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