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PC c.1126_1127delinsAC ;(p.C376T)
Variant ID: 11-66633716-CA-GT
NM_001040716.1(
PC
):c.1126_1127delinsAC;(p.C376T)
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:
LGR4 Gene Polymorphisms Are Associated With Bone and Obesity Phenotypes in Chinese Female Nuclear Families.
Frontiers In Endocrinology
Shi, Su-Qin SQ; Li, Shan-Shan SS; Zhang, Xiao-Ya XY; Wei, Zhe Z; Fu, Wen-Zhen WZ; He, Jin-Wei JW; Hu, Yun-Qiu YQ; Li, Miao M; Zheng, Li-Li LL; Zhang, Zhen-Lin ZL
Publication Date: 2021
Variant appearance in text: PC: C376T
PubMed Link:
34707566
Variant Present in the following documents:
fendo-12-656077.pdf
View BVdb publication page
Multiple common and rare variants of ABCG2 cause gout.
Rmd Open
Higashino, Toshihide T; Takada, Tappei T; Nakaoka, Hirofumi H; Toyoda, Yu Y; Stiburkova, Blanka B; Miyata, Hiroshi H; Ikebuchi, Yuki Y; Nakashima, Hiroshi H; Shimizu, Seiko S; Kawaguchi, Makoto M; Sakiyama, Masayuki M; Nakayama, Akiyoshi A; Akashi, Airi A; Tanahashi, Yuki Y; Kawamura, Yusuke Y; Nakamura, Takahiro T; Wakai, Kenji K; Okada, Rieko R; Yamamoto, Ken K; Hosomichi, Kazuyoshi K; Hosoya, Tatsuo T; Ichida, Kimiyoshi K; Ooyama, Hiroshi H; Suzuki, Hiroshi H; Inoue, Ituro I; Merriman, Tony R TR; Shinomiya, Nariyoshi N; Matsuo, Hirotaka H
Publication Date: 2017
Variant appearance in text: PC: C376T
PubMed Link:
29225919
Variant Present in the following documents:
rmdopen-2017-000464.pdf
View BVdb publication page
MtDNA meta-analysis reveals both phenotype specificity and allele heterogeneity: a model for differential association.
Scientific Reports
Marom, Shani S; Friger, Michael M; Mishmar, Dan D
Publication Date: 2017-02-23
Variant appearance in text: PC: C376T
PubMed Link:
28230165
Variant Present in the following documents:
Main text
srep43449.pdf
View BVdb publication page
Modeling xeroderma pigmentosum associated neurological pathologies with patients-derived iPSCs.
Protein & Cell
Fu, Lina L; Xu, Xiuling X; Ren, Ruotong R; Wu, Jun J; Zhang, Weiqi W; Yang, Jiping J; Ren, Xiaoqing X; Wang, Si S; Zhao, Yang Y; Sun, Liang L; Yu, Yang Y; Wang, Zhaoxia Z; Yang, Ze Z; Yuan, Yun Y; Qiao, Jie J; Izpisua Belmonte, Juan Carlos JC; Qu, Jing J; Liu, Guang-Hui GH
Publication Date: 2016-03
Variant appearance in text: PC: C376T
PubMed Link:
26874523
Variant Present in the following documents:
13238_2016_Article_244.pdf
View BVdb publication page
Association between DNA methylation in the miR-328 5'-flanking region and inter-individual differences in miR-328 and BCRP expression in human placenta.
Plos One
Saito, Jumpei J; Hirota, Takeshi T; Furuta, Shinji S; Kobayashi, Daisuke D; Takane, Hiroshi H; Ieiri, Ichiro I
Publication Date: 2013
Variant appearance in text: PC: C376T
PubMed Link:
23991164
Variant Present in the following documents:
pone.0072906.pdf
View BVdb publication page