A novel de novo mutation in MYT1, the unique OAVS gene identified so far
MYT1基因中一种新的从头突变,这是迄今为止发现的唯一OAVS基因。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2017.101
Berenguer, Marie; Tingaud-Sequeira, Angele; Colovati, Mileny; Melaragno, Maria I; Bragagnolo, Silvia; Perez, Ana B A; Arveiler, Benoit; Lacombe, Didier; Rooryck, Caroline