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Minal C ̧alıs ̧kan, Elisabetta Manduchi, H. Shanker Rao, et al.
AJHG. 2019-07-03;105(1):89-107.
Rinki Ratnapriya, Olukayode A. Sosina, Margaret R. Starostik, et al.
Nature Genetics. 2019-02-11;51:606–610.
Xianming Wang, Michael Sterr, Ingo Burtscher, et al.
Mol Metab. 2018-03-01;9:57-68.