Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder
AGMO 中的双等位基因变异导致酶活性降低，与神经发育障碍有关
期刊:Human Genetics
影响因子:3.8
doi:10.1007/s00439-019-02065-x
Volkan Okur, Katrin Watschinger, Dmitriy Niyazov, Julie McCarrier, Donald Basel, Martin Hermann, Ernst R Werner, Wendy K Chung
