Publications:

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NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.

Bmc Genomics

Xiao, Yuanyuan Y; Zhou, Cong C; Xie, Hanbing H; Huang, Shuang S; Wang, Jing J; Liu, Shanling S

Publication Date: 2022-04-29

Variant appearance in text: TYR: K142M

PubMed Link: 35488210

Variant Present in the following documents:

• Main text
• 12864_2022_Article_8597.pdf

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Functional in silico analysis of human tyrosinase and OCA1 associated mutations.

Journal Of Analytical & Pharmaceutical Research

Patel, Milan M; Sergeev, Yuri Y

Publication Date: 2020

Variant appearance in text: OCA1: K142M

PubMed Link: 33458560

Variant Present in the following documents:

• Main text
• nihms-1637382.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: TYR: 425A>T; Lys142Met; rs754250982

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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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: TYR: 425A>T; Lys142Met

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.

Pigment Cell & Melanoma Research

Zhong, Zilin Z; Gu, Li L; Zheng, Xiujie X; Ma, Nengjun N; Wu, Zehua Z; Duan, Juan J; Zhang, Jun J; Chen, Jianjun J

Publication Date: 2019-09

Variant appearance in text: OCA1: 425A>T

PubMed Link: 31077556

Variant Present in the following documents:

• Main text

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Tyrosinase gene mutations in the Chinese Han population with OCA1.

Genetics Research

Liu, Ning N; Kong, Xiang Dong XD; Shi, Hui Rong HR; Wu, Qing Hua QH; Jiang, Miao M

Publication Date: 2014-11-12

Variant appearance in text: OCA1: K142M

PubMed Link: 25577957

Variant Present in the following documents:

• Main text

View BVdb publication page

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