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Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblingsWang, Xiang ; Zhang, Zhu ; Zhang, Xueguang ; Shen, Ying ; Liu, HongqianHuman genomics, 2020-06, Vol.14 (1), p.1-26, Article 26 [Periódico revisado por pares]London: BioMed CentralTexto completo disponível |