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: rs10849917

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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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: MYL2: 4-77A>T; rs10849917

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Fine-mapping cis-regulatory variants in diverse human populations.

Elife

Tehranchi, Ashley A; Hie, Brian B; Dacre, Michael M; Kaplow, Irene I; Pettie, Kade K; Combs, Peter P; Fraser, Hunter B HB

Publication Date: 2019-01-16

Variant appearance in text: rs10849917

PubMed Link: 30650056

Variant Present in the following documents:

• Main text
• elife-39595.pdf

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: MYL2: 4-77A>T; rs10849917

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.

Annals Of The Rheumatic Diseases

Matsuo, Hirotaka H; Yamamoto, Ken K; Nakaoka, Hirofumi H; Nakayama, Akiyoshi A; Sakiyama, Masayuki M; Chiba, Toshinori T; Takahashi, Atsushi A; Nakamura, Takahiro T; Nakashima, Hiroshi H; Takada, Yuzo Y; Danjoh, Inaho I; Shimizu, Seiko S; Abe, Junko J; Kawamura, Yusuke Y; Terashige, Sho S; Ogata, Hiraku H; Tatsukawa, Seishiro S; Yin, Guang G; Okada, Rieko R; Morita, Emi E; Naito, Mariko M; Tokumasu, Atsumi A; Onoue, Hiroyuki H; Iwaya, Keiichi K; Ito, Toshimitsu T; Takada, Tappei T; Inoue, Katsuhisa K; Kato, Yukio Y; Nakamura, Yukio Y; Sakurai, Yutaka Y; Suzuki, Hiroshi H; Kanai, Yoshikatsu Y; Hosoya, Tatsuo T; Hamajima, Nobuyuki N; Inoue, Ituro I; Kubo, Michiaki M; Ichida, Kimiyoshi K; Ooyama, Hiroshi H; Shimizu, Toru T; Shinomiya, Nariyoshi N

Publication Date: 2016-04

Variant appearance in text: rs10849917

PubMed Link: 25646370

Variant Present in the following documents:

• annrheumdis-2014-206191-s1.pdf

View BVdb publication page

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Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.

Plos One

Posch, Maximilian G MG; Waldmuller, Stephan S; Müller, Melanie M; Scheffold, Thomas T; Fournier, David D; Andrade-Navarro, Miguel A MA; De Geeter, Bernard B; Guillaumont, Sophie S; Dauphin, Claire C; Yousseff, Dany D; Schmitt, Katharina R KR; Perrot, Andreas A; Berger, Felix F; Hetzer, Roland R; Bouvagnet, Patrice P; Özcelik, Cemil C

Publication Date: 2011

Variant appearance in text: MYL2: 4-77A>T; rs10849917

PubMed Link: 22194935

Variant Present in the following documents:

• pone.0028872.s001.pdf

View BVdb publication page

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