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: rs2293084

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs2293084

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: TMEM18: 58-201C>A; rs2293084

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: TMEM18: 58-201C>A; rs2293084

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_7.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: rs2293084

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Candidate gene study for smoking, alcohol use, and body weight in a sample of pregnant women.

The Journal Of Maternal-Fetal & Neonatal Medicine : The Official Journal Of The European Association Of Perinatal Medicine, The Federation Of Asia And Oceania Perinatal Societies, The International Society Of Perinatal Obstetricians

Wehby, George L GL; Prater, Kaitlin N KN; Ryckman, Kelli K KK; Kummet, Colleen C; Murray, Jeffrey C JC

Publication Date: 2015-05

Variant appearance in text: rs2293084

PubMed Link: 25014319

Variant Present in the following documents:

• Main text

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Variation in genes related to obesity, weight, and weight change and risk of contralateral breast cancer in the WECARE Study population.

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

Brooks, Jennifer D JD; Bernstein, Leslie L; Teraoka, Sharon N SN; Knight, Julia A JA; Mellemkjær, Lene L; John, Esther M EM; Malone, Kathleen E KE; Reiner, Anne S AS; Lynch, Charles F CF; Concannon, Patrick P; Haile, Robert W RW; Bernstein, Jonine L JL; ,

Publication Date: 2012-12

Variant appearance in text: rs2293084

PubMed Link: 23033454

Variant Present in the following documents:

• Main text

View BVdb publication page

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