Novel PARN mutations in Hoyeraal-HReidarsson syndrome patients.
收藏NIAID Data Ecosystem2026-03-11 收录
下载链接：
https://www.omicsdi.org/dataset/ega/EGAS00001003623
下载链接
链接失效反馈官方服务：
资源简介：
The deposited data correspond to the sequences of PARN gene obtained by whole exome sequencing in two patients carrying mutations in this gene as described in Benyelles et al. EMBO Mol Med 2019..
PARN is a poly(A)-specific ribonuclease that regulates the turnover of mRNAs and the maturation and stabilization of the hTR RNA component of telomerase. Data represent Sequences with PARN mutations that have been identified in two patients with Høyeraal-Hreidarsson (HH) syndrome, a rare telomere biology disorder.EGA study EGAS00001003623
创建时间：
2019-07-09
