Publications:

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: PAH: 559T>C

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Genetic variants associated with diseases in Afghan population.

Molecular Genetics & Genomic Medicine

Zadran, Suleman Khan SK; Ilyas, Muhammad M; Dawari, Shamsia S

Publication Date: 2021-05

Variant appearance in text: PAH: Trp187Arg

PubMed Link: 33486863

Variant Present in the following documents:

• MGG3-9-e1608-s001.xlsx, sheet 1

View BVdb publication page

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: 559T>C; Trp187Arg

PubMed Link: 29316886

Variant Present in the following documents:

• 12881_2017_Article_516.pdf

View BVdb publication page

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: PAH: W187R

PubMed Link: 17924342

Variant Present in the following documents:

• Main text

View BVdb publication page