De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues
神经发育障碍中的新生 MCM6 变异:与锌结合残基相关的可识别表型
期刊:Human Genetics
影响因子:3.8
doi:10.1007/s00439-023-02569-7
Daphne J Smits, Rachel Schot, Cristiana A Popescu, Kerith-Rae Dias, Lesley Ades, Lauren C Briere, David A Sweetser, Itaru Kushima, Branko Aleksic, Suliman Khan, Vasiliki Karageorgou, Natalia Ordonez, Frank J G T Sleutels, Daniëlle C M van der Kaay, Christine Van Mol, Hilde Van Esch, Aida M Bertoli-A