TBX19 mutation. A novel TBX19 gene mutation in patients with isolated ACTH deficiency
收藏NIAID Data Ecosystem2026-03-14 收录
官方服务：
资源简介：
We describe a new variant of the main TBX19 transcript (NM 005149.3, c.840del (p.(Glu280Asp fs*27)), classified as pathogenic, homozygous in 4 patients (3 index cases).
创建时间：
2023-02-09
