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JCI Insight|October 5, 2023
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumorsGhada M H Abdel-Salam, Susanne Hellmuth, Elise Gradhand, et al.Nature Genetics|August 20, 2008
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasiaBirgit S Budde, Yasmin Namavar, Peter G Barth, et al.Pageof 2