Publications:

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: rs10783779

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs10783779

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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Associations of Adiposity, Circulating Protein Biomarkers, and Risk of Major Vascular Diseases.

Jama Cardiology

Pang, Yuanjie Y; Kartsonaki, Christiana C; Lv, Jun J; Fairhurst-Hunter, Zammy Z; Millwood, Iona Y IY; Yu, Canqing C; Guo, Yu Y; Chen, Yiping Y; Bian, Zheng Z; Yang, Ling L; Chen, Junshi J; Clarke, Robert R; Walters, Robin G RG; Holmes, Michael V MV; Li, Liming L; Chen, Zhengming Z

Publication Date: 2021-03-01

Variant appearance in text: rs10783779

PubMed Link: 33263724

Variant Present in the following documents:

• jamacardiol-e206041-s001.pdf

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs10783779

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

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Association between ErbB3 genetic polymorphisms and coronary artery disease in the Han and Uyghur populations of China.

International Journal Of Clinical And Experimental Medicine

Maitusong, Buamina B; Xie, Xiang X; Ma, Yi-Tong YT; Fu, Zhen-Yan ZY; Yang, Yi-Ning YN; Li, Xiao-Mei XM; Liu, Fen F; Chen, Bang-Dang BD; Gai, Min-Tao MT

Publication Date: 2015

Variant appearance in text: rs10783779

PubMed Link: 26629179

Variant Present in the following documents:

• Main text

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