Publications:

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: 2017-10-05

Variant appearance in text: MHP: Ile65Ser

PubMed Link: 28982351

Variant Present in the following documents:

• 12881_2017_467_MOESM1_ESM.xls, sheet 1

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Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

American Journal Of Human Genetics

Pey, Angel L AL; Stricher, Francois F; Serrano, Luis L; Martinez, Aurora A

Publication Date: 2007-11

Variant appearance in text: MHP: I65S

PubMed Link: 17924342

Variant Present in the following documents:

• Main text

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