Publications:

Follow-up of two newborns with c.158G>A (p.Arg53His) mutation in gene and assessment of the site function.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal Of Zhejiang University. Medical Sciences

Wang, Jie J; Zhu, Bo B; Zhang, Lichun L; Zhao, Yitong Y; Wang, Xiaohua X; Jia, Yueqi Y

Publication Date: 2021-08-25

Variant appearance in text: PAH: L197*

PubMed Link: 34704413

Variant Present in the following documents:

• Main text

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The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.

Annals Of Translational Medicine

Su, Yajie Y; Wang, Huijun H; Rejiafu, Nuerya N; Wu, Bingbing B; Jiang, Haili H; Chen, Hongbo H; A, Xian X; Qian, Yanyan Y; Li, Mingzhu M; Lu, Yulan Y; Ren, Yan Y; Li, Long L; Zhou, Wenhao W

Publication Date: 2019-06

Variant appearance in text: PAH: 590T>A; L197*

PubMed Link: 31355225

Variant Present in the following documents:

• Main text

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