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: rs11574625

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs11574625

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: rs11574625

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Nuclease-free Adeno-Associated Virus-Mediated Il2rg Gene Editing in X-SCID Mice.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy

Hiramoto, Takafumi T; Li, Li B LB; Funk, Sarah E SE; Hirata, Roli K RK; Russell, David W DW

Publication Date: 2018-05-02

Variant appearance in text: rs11574625

PubMed Link: 29606506

Variant Present in the following documents:

• Main text

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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: rs11574625

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Genetic variation in IL18R1 and IL18 genes and Inteferon γ ELISPOT response to smallpox vaccination: an unexpected relationship.

The Journal Of Infectious Diseases

Ovsyannikova, Inna G IG; Haralambieva, Iana H IH; Kennedy, Richard B RB; O'Byrne, Megan M MM; Pankratz, V Shane VS; Poland, Gregory A GA

Publication Date: 2013-11-01

Variant appearance in text: rs11574625

PubMed Link: 23901078

Variant Present in the following documents:

• Main text

View BVdb publication page

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A potential novel spontaneous preterm birth gene, AR, identified by linkage and association analysis of X chromosomal markers.

Plos One

Karjalainen, Minna K MK; Huusko, Johanna M JM; Ulvila, Johanna J; Sotkasiira, Jenni J; Luukkonen, Aino A; Teramo, Kari K; Plunkett, Jevon J; Anttila, Verneri V; Palotie, Aarno A; Haataja, Ritva R; Muglia, Louis J LJ; Hallman, Mikko M

Publication Date: 2012

Variant appearance in text: rs11574625

PubMed Link: 23227263

Variant Present in the following documents:

• Main text
• pone.0051378.pdf

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