Publications:

A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.

World Journal Of Pediatrics : Wjp

Yang, Ru-Lai RL; Qian, Gu-Ling GL; Wu, Ding-Wen DW; Miao, Jing-Kun JK; Yang, Xue X; Wu, Ben-Qing BQ; Yan, Ya-Qiong YQ; Li, Hai-Bo HB; Mao, Xin-Mei XM; He, Jun J; Shen, Huan H; Zou, Hui H; Xue, Shu-Yuan SY; Li, Xiao-Ze XZ; Niu, Ting-Ting TT; Xiao, Rui R; Zhao, Zheng-Yan ZY

Publication Date: 2023-02-27

Variant appearance in text: GAA: 2621C>T

PubMed Link: 36847978

Variant Present in the following documents:

• 12519_2022_Article_670.pdf

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: GAA: 2621C>T

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.

Bmc Medical Genetics

Li, Xin-Hua XH; Lu, Yi Y; Ling, Yun Y; Fu, Qing-Chun QC; Xu, Jie J; Zang, Guo-Qing GQ; Zhou, Feng F; De-Min, Yu Y; Han, Yue Y; Zhang, Dong-Hua DH; Gong, Qi-Ming QM; Lu, Zhi-Meng ZM; Kong, Xiao-Fei XF; Wang, Jian-She JS; Zhang, Xin-Xin XX

Publication Date: 2011-01-11

Variant appearance in text: GAA: 2621C>T

PubMed Link: 21219664

Variant Present in the following documents:

• Main text
• 1471-2350-12-6.pdf

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