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CELSR2 c.5969G>A ;(p.R1990H)
Variant ID: 1-109808784-G-A
NM_001408.2(
CELSR2
):c.5969G>A;(p.R1990H)
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:
A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.
Frontiers In Immunology
Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X
Publication Date: 2022
Variant appearance in text: CELSR2: 5969G>A; R1990H
PubMed Link:
35874768
Variant Present in the following documents:
DataSheet_1.xlsx, sheet 2
View BVdb publication page
PIM1 genetic alterations associated with distinct molecular profiles, phenotypes and drug responses in diffuse large B-cell lymphoma.
Clinical And Translational Medicine
Zhang, Huilai H; Lu, Yaxiao Y; Zhang, Tingting T; Guan, Qingpei Q; Wang, Xiaoxuan X; Guo, Yixian Y; Li, Lanfang L; Qiu, Lihua L; Qian, Zhengzi Z; Zhou, Shiyong S; Gong, Wenchen W; Meng, Bin B; Ren, Xiubao X; Wang, Xianhuo X
Publication Date: 2022-04
Variant appearance in text: CELSR2: R1990H
PubMed Link:
35415904
Variant Present in the following documents:
CTM2-12-e808-s003.xlsx, sheet 2
View BVdb publication page
Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects.
Cells
Wang, Mingqin M; Marco, Patrizia de P; Capra, Valeria V; Kibar, Zoha Z
Publication Date: 2019-10-04
Variant appearance in text: CELSR2: Arg1990His
PubMed Link:
31590237
Variant Present in the following documents:
Main text
cells-08-01198.pdf
View BVdb publication page
Genomic analysis identifies masqueraders of full-term cerebral palsy.
Annals Of Clinical And Translational Neurology
Takezawa, Yusuke Y; Kikuchi, Atsuo A; Haginoya, Kazuhiro K; Niihori, Tetsuya T; Numata-Uematsu, Yurika Y; Inui, Takehiko T; Yamamura-Suzuki, Saeko S; Miyabayashi, Takuya T; Anzai, Mai M; Suzuki-Muromoto, Sato S; Okubo, Yukimune Y; Endo, Wakaba W; Togashi, Noriko N; Kobayashi, Yasuko Y; Onuma, Akira A; Funayama, Ryo R; Shirota, Matsuyuki M; Nakayama, Keiko K; Aoki, Yoko Y; Kure, Shigeo S
Publication Date: 2018-05
Variant appearance in text: CELSR2: R1990H
PubMed Link:
29761117
Variant Present in the following documents:
ACN3-5-538-s001.xlsx, sheet 1
View BVdb publication page
Genetic analysis of Wnt/PCP genes in neural tube defects.
Bmc Medical Genomics
Chen, Zhongzhong Z; Lei, Yunping Y; Cao, Xuanye X; Zheng, Yufang Y; Wang, Fang F; Bao, Yihua Y; Peng, Rui R; Finnell, Richard H RH; Zhang, Ting T; Wang, Hongyan H
Publication Date: 2018-04-04
Variant appearance in text: CELSR2: Arg1990His
PubMed Link:
29618362
Variant Present in the following documents:
Main text
12920_2018_Article_355.pdf
View BVdb publication page