CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2
在一个携带 RASGRP2 基因可能致病变异的有症状杂合子和纯合子携带者的家族中发现 CalDAG-GEFI 缺乏症
期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms222212423
Morais, Sara; Pereira, Mónica; Lau, Catarina; Gonçalves, Ana; Monteiro, Catarina; Gonçalves, Marta; Oliveira, Jorge; Moreira, Lurdes; Cruz, Eugénia; Santos, Rosário; Lima, Margarida