Publications:

Detection of De Novo PAX2 Variants and Phenotypes in Chinese Population: A Single-Center Study.

Frontiers In Genetics

Xiong, Hua-Ying HY; Shi, Yong-Qi YQ; Zhong, Cheng C; Yang, Qin Q; Zhang, Gaofu G; Yang, Haiping H; Wu, Daoqi D; Chen, Yaxi Y; Li, Qiu Q; Wang, Mo M

Publication Date: 2022

Variant appearance in text: OCA2: 727C>T

PubMed Link: 35444690

Variant Present in the following documents:

• Main text
• fgene-13-799562.pdf

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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: 727C>T; Arg243Cys

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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