Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
双等位基因 VARS 变异会导致发育性脑病和小头畸形,这种现象在 vars 基因敲除的斑马鱼中重现
期刊:Nature Communications
影响因子:14.7
doi:10.1038/s41467-018-07953-w
Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Katherine L Helbig, Joseph Hersh, Sedat Isi