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RB1 c.512T>G ;(p.L171R)
Variant ID: 13-48921972-T-G
NM_000321.2(
RB1
):c.512T>G;(p.L171R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.
Frontiers In Oncology
Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L
Publication Date: 2021
Variant appearance in text: RB1: L171R
PubMed Link:
34858840
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.
European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12
Variant appearance in text: RB1: 512T>G; Leu171Trp
PubMed Link:
33262486
Variant Present in the following documents:
Main text
View BVdb publication page