Publications:

Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.

Orphanet Journal Of Rare Diseases

Zhang, Chuan C; Yan, Yousheng Y; Zhou, Bingbo B; Wang, Yupei Y; Tian, Xinyuan X; Hao, Shengju S; Ma, Panpan P; Zheng, Lei L; Zhang, Qinghua Q; Hui, Ling L; Wang, Yan Y; Cao, Zongfu Z; Ma, Xu X

Publication Date: 2023-05-26

Variant appearance in text: PAH: 532G>A

PubMed Link: 37237386

Variant Present in the following documents:

• Main text
• 13023_2023_Article_2742.pdf

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Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.

Bmc Medical Genomics

Miao, Mingzhu M; Lu, Shoulian S; Sun, Xiao X; Zhao, Meng M; Wang, Jue J; Su, Xiaotan X; Jin, Bai B; Sun, Lizhou L

Publication Date: 2022-07-13

Variant appearance in text: PAH: Glu178Lys

PubMed Link: 35831859

Variant Present in the following documents:

• 12920_2022_1311_MOESM1_ESM.xls, sheet 1

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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: PAH: 532G>A

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

Bmc Medical Genetics

Liu, Ning N; Huang, Qiuying Q; Li, Qingge Q; Zhao, Dehua D; Li, Xiaole X; Cui, Lixia L; Bai, Ying Y; Feng, Yin Y; Kong, Xiangdong X

Publication Date: 2018-01-09

Variant appearance in text: PAH: 532G>A; Glu178Lys

PubMed Link: 29316886

Variant Present in the following documents:

• 12881_2017_Article_516.pdf

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Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

Scientific Reports

Li, Nana N; Jia, Haitao H; Liu, Zhen Z; Tao, Jing J; Chen, Song S; Li, Xiaohong X; Deng, Ying Y; Jin, Xi X; Song, Jiaping J; Zhang, Liangtao L; Liang, Yu Y; Wang, Wei W; Zhu, Jun J

Publication Date: 2015-10-27

Variant appearance in text: PAH: E178K

PubMed Link: 26503515

Variant Present in the following documents:

• Main text
• srep15769.pdf

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