Publications:

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Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Frontiers In Neurology

Chen, Zirong Z; Yang, Huaitao H; Wang, Jiajia J; Long, Guoxian G; Xi, Qingsong Q; Chen, Tao T; He, Yue Y; Zhang, Bin B; Wan, Feng F

Publication Date: 2023

Variant appearance in text: HLA-DRB5: 763+1G>C; rs201788268

PubMed Link: 37181548

Variant Present in the following documents:

• Data_Sheet_2.xlsx, sheet 2

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: HLA-DRB5: 763+1G>C; rs201788268

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Signal Transduction And Targeted Therapy

Chen, Min M; Yao, Chencheng C; Qin, Yingying Y; Cui, Xiuhong X; Li, Peng P; Ji, Zhiyong Z; Lin, Limei L; Wu, Haowei H; Zhou, Zhi Z; Gui, Yaoting Y; Li, Zheng Z; Gao, Fei F

Publication Date: 2022-01-03

Variant appearance in text: HLA-DRB5: 763+1G>C; rs201788268

PubMed Link: 34980881

Variant Present in the following documents:

• 41392_2021_710_MOESM2_ESM.xlsx, sheet 2
• 41392_2021_710_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Signal Transduction And Targeted Therapy

Chen, Min M; Yao, Chencheng C; Qin, Yingying Y; Cui, Xiuhong X; Li, Peng P; Ji, Zhiyong Z; Lin, Limei L; Wu, Haowei H; Zhou, Zhi Z; Gui, Yaoting Y; Li, Zheng Z; Gao, Fei F

Publication Date: 2022-01-03

Variant appearance in text: HLA-DRB5: 763+1G>C; rs201788268

PubMed Link: 34980881

Variant Present in the following documents:

• 41392_2021_710_MOESM2_ESM.xlsx, sheet 3
• 41392_2021_710_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Frontiers In Cell And Developmental Biology

Zhu, Yi-Ming YM; Li, Qi Q; Gao, Xue X; Li, Yan-Fei YF; Liu, You-Li YL; Dai, Pu P; Li, Xiang-Ping XP

Publication Date: 2021

Variant appearance in text: HLA-DRB5: 763+1G>C; rs201788268

PubMed Link: 34692690

Variant Present in the following documents:

• Table_2.xlsx, sheet 3

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs201788268

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: HLA-DRB5: 763+1G>C; rs201788268

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: rs201788268

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 3
• NIHMS753666-supplement-2.xlsx, sheet 8
• NIHMS753666-supplement-2.xlsx, sheet 5
• NIHMS753666-supplement-2.xlsx, sheet 11
• NIHMS753666-supplement-2.xlsx, sheet 4
• NIHMS753666-supplement-2.xlsx, sheet 7
• NIHMS753666-supplement-2.xlsx, sheet 9
• NIHMS753666-supplement-2.xlsx, sheet 10

View BVdb publication page

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