Publications:

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Identification of 12 OCA Cases in Chinese Population and Two Novel Variants.

Frontiers In Genetics

Zhong, Zilin Z; Zhou, Zheng Z; Chen, Jianjun J; Zhang, Jun J

Publication Date: 2022

Variant appearance in text: OCA2: 2180T>C; Leu727Pro

PubMed Link: 35923705

Variant Present in the following documents:

• Main text
• fgene-13-926511.pdf

View BVdb publication page

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Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.

Frontiers In Genetics

Ma, Linya L; Zhu, Jianjian J; Wang, Jing J; Huang, Yazhou Y; Zhang, Jibo J; Wang, Chao C; Zhou, Yuan Y; Peng, Dan D

Publication Date: 2021

Variant appearance in text: OCA2: 2180T>C

PubMed Link: 34707637

Variant Present in the following documents:

• Main text
• fgene-12-715437.pdf
• Table_1.pdf

View BVdb publication page

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Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.

Bmc Medical Genetics

Yang, Qi Q; Yi, Sheng S; Li, Mengting M; Xie, Bobo B; Luo, Jinsi J; Wang, Jin J; Rong, Xiuliang X; Zhang, Qinle Q; Qin, Zailong Z; Hang, Limei L; Feng, Shihan S; Fan, Xin X

Publication Date: 2019-06-13

Variant appearance in text: OCA2: 2180T>C; L727P

PubMed Link: 31196117

Variant Present in the following documents:

• Main text
• 12881_2019_Article_842.pdf

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: OCA2: 2180T>C; Leu727Pro

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: OCA2: 2180T>C; L727P

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: OCA2: L727P

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-7.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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