Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs12581281

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research

Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y

Publication Date: 2022-12

Variant appearance in text: rs12581281

PubMed Link: 36307579

Variant Present in the following documents:

• 41422_2022_736_MOESM10_ESM.xlsx, sheet 3

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs12581281

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Serum 25-Hydroxy Vitamin D Levels and Association of Vitamin D Receptor Gene Polymorphisms in Vitiligo.

Journal Of Korean Medical Science

Kim, Tae-Eun TE; Kim, Su Kang SK; Shin, Min Kyung MK; Jeong, Ki-Heon KH; Lee, Mu-Hyoung MH

Publication Date: 2022-04-11

Variant appearance in text: rs12581281

PubMed Link: 35411730

Variant Present in the following documents:

• jkms-37-e110.pdf

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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: rs12581281

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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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: rs12581281

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Effects of vitamin A and D receptor gene polymorphisms/haplotypes on immune responses to measles vaccine.

Pharmacogenetics And Genomics

Ovsyannikova, Inna G IG; Haralambieva, Iana H IH; Vierkant, Robert A RA; O'Byrne, Megan M MM; Jacobson, Robert M RM; Poland, Gregory A GA

Publication Date: 2012-01

Variant appearance in text: rs12581281

PubMed Link: 22082653

Variant Present in the following documents:

• Main text

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Prostate cancer susceptibility Loci identified on chromosome 12 in African Americans.

Plos One

Bonilla, Carolina C; Hooker, Stanley S; Mason, Tshela T; Bock, Cathryn H CH; Kittles, Rick A RA

Publication Date: 2011-02-16

Variant appearance in text: rs12581281

PubMed Link: 21358824

Variant Present in the following documents:

• Main text
• pone.0016044.pdf

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Genetic variation in the vitamin D receptor (VDR) and the vitamin D-binding protein (GC) and risk for colorectal cancer: results from the Colon Cancer Family Registry.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Poynter, Jenny N JN; Jacobs, Elizabeth T ET; Figueiredo, Jane C JC; Lee, Won H WH; Conti, David V DV; Campbell, Peter T PT; Levine, A Joan AJ; Limburg, Paul P; Le Marchand, Loic L; Cotterchio, Michelle M; Newcomb, Polly A PA; Potter, John D JD; Jenkins, Mark A MA; Hopper, John L JL; Duggan, David J DJ; Baron, John A JA; Haile, Robert W RW

Publication Date: 2010-02

Variant appearance in text: rs12581281

PubMed Link: 20086113

Variant Present in the following documents:

• Main text

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