5c39bb24-c361-4957-8b55-182cd43a5e6a - samples
收藏NIAID Data Ecosystem2026-03-12 收录
下载链接：
https://www.omicsdi.org/dataset/ega/EGAD00001007978
下载链接
链接失效反馈官方服务：
资源简介：
Neurofibromatosis type 1 (NF1) is caused by loss-of-function variants in the NF1 gene. Approximately 10% of these variants affect RNA splicing and are either missed by conventional DNA diagnostics or are misinterpreted by in silico splicing predictions. Therefore, a targeted RNAseq-based approach was designed to detect pathogenic RNA splicing and associated pathogenic DNA variants. an in-house developed tool (QURNAS) was used to calculate the enrichment score (ERS) for each splicing event. RNA enrichment of NF1 and SPRED1 was done using SPET (NUGEN - NF1 only) and using SureSelect (Agilent - NF1 and SPRED1).EGA dataset EGAD00001007978
创建时间：
2021-08-17
