Publications:

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: BRCA1: 5193+1602A>G; rs8176267

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs8176267

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

Genetic variation of the brca1 and brca2 genes in macedonian patients.

Balkan Journal Of Medical Genetics : Bjmg

Maleva, I I; Madjunkova, S S; Bozhinovski, G G; Smickova, E E; Kondov, G G; Spiroski, Z Z; Arsovski, A A; Plaseska-Karanfilska, D D

Publication Date: 2012-12

Variant appearance in text: rs8176267

PubMed Link: 24052750

Variant Present in the following documents:

• Main text
• bjmg-15-02a-81.pdf

View BVdb publication page

Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer.

Breast Cancer Research : Bcr

Cox, David G DG; Kraft, Peter P; Hankinson, Susan E SE; Hunter, David J DJ

Publication Date: 2005

Variant appearance in text: rs8176267

PubMed Link: 15743496

Variant Present in the following documents:

• Main text
• bcr973.pdf

View BVdb publication page