Publications:

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.

Scientific Reports

Chen, Ting T; Xu, Weize W; Wu, Dingwen D; Han, Jiamin J; Zhu, Ling L; Tong, Fan F; Yang, Rulai R; Zhao, Zhengyan Z; Jiang, Pingping P; Shu, Qiang Q

Publication Date: 2018-11-20

Variant appearance in text: PAH: 361T>C; F121L

PubMed Link: 30459323

Variant Present in the following documents:

• Main text
• 41598_2018_Article_35373.pdf
• 41598_2018_35373_MOESM1_ESM.pdf

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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: Phe121Leu

PubMed Link: 28754886

Variant Present in the following documents:

• Main text
• 41598_2017_Article_6462.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: PAH: F121L

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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