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: BRCA2: 6937+847T>G; rs9567576

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics

Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J

Publication Date: 2018-06-22

Variant appearance in text: rs9567576

PubMed Link: 29929473

Variant Present in the following documents:

• 12881_2018_605_MOESM2_ESM.xlsx, sheet 1
• 12881_2018_605_MOESM2_ESM.xlsx, sheet 2

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRCA2: 6937+847T>G

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers.

Breast Cancer Research : Bcr

Maia, Ana-Teresa AT; Antoniou, Antonis C AC; O'Reilly, Martin M; Samarajiwa, Shamith S; Dunning, Mark M; Kartsonaki, Christiana C; Chin, Suet-Feung SF; Curtis, Christina N CN; McGuffog, Lesley L; Domchek, Susan M SM; , ; Easton, Douglas F DF; Peock, Susan S; Frost, Debra D; Evans, D Gareth DG; Eeles, Ros R; Izatt, Louise L; Adlard, Julian J; Eccles, Diana D; , ; Sinilnikova, Olga M OM; Mazoyer, Sylvie S; Stoppa-Lyonnet, Dominique D; Gauthier-Villars, Marion M; Faivre, Laurence L; Venat-Bouvet, Laurence L; Delnatte, Capucine C; Nevanlinna, Heli H; Couch, Fergus J FJ; Godwin, Andrew K AK; Caligo, Maria Adelaide MA; , ; Barkardottir, Rosa B RB; , ; Chen, Xiaoqing X; Beesley, Jonathan J; Healey, Sue S; Caldas, Carlos C; Chenevix-Trench, Georgia G; Ponder, Bruce A J BA

Publication Date: 2012-04-18

Variant appearance in text: rs9567576

PubMed Link: 22513257

Variant Present in the following documents:

• Main text
• bcr3169.pdf

View BVdb publication page