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: rs17076657

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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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: rs17076657

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine

Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA

Publication Date: 2019-09

Variant appearance in text: rs17076657

PubMed Link: 31397093

Variant Present in the following documents:

• Main text
• MGG3-7-e931.pdf

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs17076657

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11

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Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.

Molecular Genetics & Genomic Medicine

Sproll, Patrick P; Eid, Wassim W; Gomes, Camila R CR; Mendonca, Berenice B BB; Gomes, Nathalia L NL; Costa, Elaine M-F EM; Biason-Lauber, Anna A

Publication Date: 2018-09

Variant appearance in text: rs17076657

PubMed Link: 29998616

Variant Present in the following documents:

• Main text
• MGG3-6-785.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs17076657

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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A pilot study of the association between genetic polymorphisms involved in estrogen signaling and infant male genital phenotypes.

Asian Journal Of Andrology

Sathyanarayana, Sheela S; Swan, Shanna H SH; Farin, Federico M FM; Wilkerson, Hui-Wen HW; Bamshad, Michael M; Grady, Richard R; Zhou, Chuan C; Schwartz, Stephen M SM

Publication Date: 2012-09

Variant appearance in text: rs17076657

PubMed Link: 22580635

Variant Present in the following documents:

• Main text

View BVdb publication page

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