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Anthony Aylward, Mei-Lin Okino, Paola Benaglio, et al.
PLoS Genet. 2021-05-13;17(5):e1009531.
Mete Civelek, Ying Wu, Calvin Pan, et al.
AJHG. 2017-03-02;100(3):428–443.
Augustine Kong, Valgerdur Steinthorsdottir, Gisli Masson, et al.
Nature. 2009-12-17;462(7275):868-74.