A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy

Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L. Cantarel, Jimin Pei, Nick V. Grishin, Stacy Hewson, Devon Knight, Sonal Mahida, Donnice Michel, Mark Tarnopolsky, Annapurna Poduri, Alexander Rotenberg, Neal Sondheimer, Ralph J. DeBerardinis

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12 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology