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GC c.284_285del ;(p.S95Lfs*2)
Variant ID: 4-72631337-AGG-A
NM_000583.3(
GC
):c.284_285del;(p.S95Lfs*2)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Decoding the pathogenesis of Diamond-Blackfan anemia using single-cell RNA-seq.
Cell Discovery
Wang, Bingrui B; Wang, Chenchen C; Wan, Yang Y; Gao, Jie J; Ma, Yige Y; Zhang, Yingnan Y; Tong, Jingyuan J; Zhang, Yingchi Y; Liu, Jinhua J; Chang, Lixian L; Xu, Changlu C; Shen, Biao B; Chen, Yumei Y; Jiang, Erlie E; Kurita, Ryo R; Nakamura, Yukio Y; Lim, Kim-Chew KC; Engel, James Douglas JD; Zhou, Jiaxi J; Cheng, Tao T; Zhu, Xiaofan X; Zhu, Ping P; Shi, Lihong L
Publication Date: 2022-05-10
Variant appearance in text: GC: 284_285del
PubMed Link:
35534476
Variant Present in the following documents:
41421_2022_389_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page