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KCNQ1 c.1514+28975A>G
Variant ID: 11-2712286-A-G
NM_000218.2(
KCNQ1
):c.1514+28975A>G
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Plos One
Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y
Publication Date: 2022
Variant appearance in text: rs7939976
PubMed Link:
36350814
Variant Present in the following documents:
pone.0276233.s004.xlsx, sheet 1
View BVdb publication page
Role of Long Non-Coding RNA Polymorphisms in Cancer Chemotherapeutic Response.
Journal Of Personalized Medicine
Zhang, Zheng Z; Gu, Meng M; Gu, Zhongze Z; Lou, Yan-Ru YR
Publication Date: 2021-06-04
Variant appearance in text: rs7939976
PubMed Link:
34199840
Variant Present in the following documents:
Main text
jpm-11-00513.pdf
View BVdb publication page
Association study between KCNQ1 and KCNQ1OT1 genetic polymorphisms and gastric cancer susceptibility and survival in a Chinese Han population: a case-control study.
Annals Of Translational Medicine
Yang, Zhenyu Z; Yuan, Lijuan L; Yang, Lin L; Peng, Shujia S; Yang, Ping P; He, Xianli X; Bao, Guoqiang G
Publication Date: 2021-01
Variant appearance in text: rs7939976
PubMed Link:
33569458
Variant Present in the following documents:
Main text
atm-09-02-156.pdf
View BVdb publication page
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29
Variant appearance in text: rs7939976
PubMed Link:
30497413
Variant Present in the following documents:
12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.
Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20
Variant appearance in text: rs7939976
PubMed Link:
25944692
Variant Present in the following documents:
oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page