Bibliome.ai browser hg19
Search
About
Stats
FAQ
GAA c.1308_1310del ;(p.R437del)
Variant ID: 17-78082606-CCGG-C
NM_000152.3(
GAA
):c.1308_1310del;(p.R437del)
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:
Integrating real-time in vivo tumour genomes for longitudinal analysis and management of glioma recurrence.
Clinical And Translational Medicine
Sheng, Zhiyuan Z; Yu, Jinliang J; Deng, Kaiyuan K; Bu, Yage Y; Wu, Shuang S; Xu, Sensen S; Gao, Yushuai Y; Zhang, Qianqian Q; Yan, Zhaoyue Z; Bu, Chaojie C; Chen, Zhongcan Z; Gu, Jianjun J; Jia, Yan Y; Gao, Xinya X; Zemmar, Ajmal A; Sumardi, Fitri F; Hernesniemi, Juha J; Kong, Lingfei L; Liu, Gang G; Li, Ming M; Wang, Meiyun M; Li, Tianxiao T; Bu, Xingyao X
Publication Date: 2021-11
Variant appearance in text: GAA: 1306_1308del
PubMed Link:
34841677
Variant Present in the following documents:
CTM2-11-e567-s004.xlsx, sheet 5
View BVdb publication page
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.
Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11
Variant appearance in text: GAA: r436del
PubMed Link:
27694994
Variant Present in the following documents:
NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page