A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
一种相对常见的纯合 TRAPPC4 剪接变体与婴儿早期神经退行性疾病有关
期刊:European Journal of Human Genetics
影响因子:3.7
doi:10.1038/s41431-020-00717-5
Shereen G Ghosh #, Marcello Scala #, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W Breuss, Neda Mazaheri, Laila Selim, Fatemeh Hadipour, Lynn Pais, Chloe A Stutterd, Vasiliki Karageorgou, Amber Begtrup, Amy Crunk, Jane Juusola, Rebecca Willaert, Leigh A Flore, Kelly Kennelly,
