Publications:

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: rs2241717

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

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A Single-Nucleotide Polymorphism (rs1131243) of the Transforming Growth Factor Beta Signaling Pathway Contributes to Risk of Acute Rejection in Chinese Renal Transplant Recipients.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Zheng, Ming M; Yang, Haiwei H; Li, Wencheng W; Zhou, Jiajun J; Wei, Jintao J; Wang, Zijie Z; Guo, Miao M; Chen, Hao H; Sun, Li L; Han, Zhijian Z; Tao, Jun J; Ju, Xiaobing X; Tan, Ruoyun R; Wei, Jifu J; Gu, Min M

Publication Date: 2019-12-01

Variant appearance in text: rs2241717

PubMed Link: 31786580

Variant Present in the following documents:

• Main text
• medscimonit-25-9138.pdf

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Meta-analysis of diabetic nephropathy associated genetic variants in inflammation and angiogenesis involved in different biochemical pathways.

Bmc Medical Genetics

Nazir, Nyla N; Siddiqui, Khalid K; Al-Qasim, Sara S; Al-Naqeb, Dhekra D

Publication Date: 2014-10-04

Variant appearance in text: rs2241717

PubMed Link: 25280384

Variant Present in the following documents:

• Main text
• 12881_2014_Article_103.pdf

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Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.

Nature Genetics

Zhang, Ben B; Jia, Wei-Hua WH; Matsuda, Koichi K; Kweon, Sun-Seog SS; Matsuo, Keitaro K; Xiang, Yong-Bing YB; Shin, Aesun A; Jee, Sun Ha SH; Kim, Dong-Hyun DH; Cai, Qiuyin Q; Long, Jirong J; Shi, Jiajun J; Wen, Wanqing W; Yang, Gong G; Zhang, Yanfeng Y; Li, Chun C; Li, Bingshan B; Guo, Yan Y; Ren, Zefang Z; Ji, Bu-Tian BT; Pan, Zhi-Zhong ZZ; Takahashi, Atsushi A; Shin, Min-Ho MH; Matsuda, Fumihiko F; Gao, Yu-Tang YT; Oh, Jae Hwan JH; Kim, Soriul S; Ahn, Yoon-Ok YO; , ; Chan, Andrew T AT; Chang-Claude, Jenny J; Slattery, Martha L ML; , ; Gruber, Stephen B SB; Schumacher, Fredrick R FR; Stenzel, Stephanie L SL; , ; Casey, Graham G; Kim, Hyeong-Rok HR; Jeong, Jin-Young JY; Park, Ji Won JW; Li, Hong-Lan HL; Hosono, Satoyo S; Cho, Sang-Hee SH; Kubo, Michiaki M; Shu, Xiao-Ou XO; Zeng, Yi-Xin YX; Zheng, Wei W

Publication Date: 2014-06

Variant appearance in text: rs2241717

PubMed Link: 24836286

Variant Present in the following documents:

• NIHMS588441-supplement-1.pdf

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Association of genetic variation in the transforming growth factor beta-1 gene with serum levels and risk of colorectal neoplasia.

Cancer Research

Saltzman, Barbara S BS; Yamamoto, Jennifer F JF; Decker, Robert R; Yokochi, Lance L; Theriault, Andre G AG; Vogt, Thomas M TM; Le Marchand, Loïc L

Publication Date: 2008-02-15

Variant appearance in text: rs2241717

PubMed Link: 18281501

Variant Present in the following documents:

• Main text

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