BRIP1 c.1340+109G>A

Variant ID: 17-59876352-C-T

NM_032043.2(BRIP1):c.1340+109G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: BRIP1: 1340+109G>A
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s010.xlsx, sheet 1
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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2191248
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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Association between common variation in 120 candidate genes and breast cancer risk.

Plos Genetics
Pharoah, Paul D P PD; Tyrer, Jonathan J; Dunning, Alison M AM; Easton, Douglas F DF; Ponder, Bruce A J BA; ,
Publication Date: 2007-03-16

Variant appearance in text: rs2191248
PubMed Link: 17367212
Variant Present in the following documents:
View BVdb publication page



Tagging single nucleotide polymorphisms in the BRIP1 gene and susceptibility to breast and ovarian cancer.

Plos One
Song, Honglin H; Ramus, Susan J SJ; Kjaer, Susanne Krüger SK; Hogdall, Estrid E; Dicioccio, Richard A RA; Whittemore, Alice S AS; McGuire, Valerie V; Hogdall, Claus C; Jacobs, Ian J IJ; Easton, Douglas F DF; Ponder, Bruce A J BA; Dunning, Alison M AM; Gayther, Simon A SA; Pharoah, Paul D P PD
Publication Date: 2007-03-07

Variant appearance in text: rs2191248
PubMed Link: 17342202
Variant Present in the following documents:
  • Main text
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