Publications:

Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.

Frontiers In Genetics

Wilhelm, Kevin K; Edick, Mathew J MJ; Berry, Susan A SA; Hartnett, Michael M; Brower, Amy A

Publication Date: 2022

Variant appearance in text: PAH: 1070G>A

PubMed Link: 35692825

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 6
• DataSheet1.xlsx, sheet 2

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The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.

Scientific Reports

Zhu, Tianwen T; Ye, Jun J; Han, Lianshu L; Qiu, Wenjuan W; Zhang, Huiwen H; Liang, Lili L; Gu, Xuefan X

Publication Date: 2017-07-28

Variant appearance in text: PAH: Cys357Tyr

PubMed Link: 28754886

Variant Present in the following documents:

• Main text
• 41598_2017_Article_6462.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: C357Y

PubMed Link: 26503515

Variant Present in the following documents:

• Main text
• srep15769.pdf

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