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: 692C>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PAH: S231F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.

Jimd Reports

Djordjevic, Maja M; Klaassen, Kristel K; Sarajlija, Adrijan A; Tosic, Natasa N; Zukic, Branka B; Kecman, Bozica B; Ugrin, Milena M; Spasovski, Vesna V; Pavlovic, Sonja S; Stojiljkovic, Maja M

Publication Date: 2013

Variant appearance in text: PAH: 692C>T; S231F

PubMed Link: 23430547

Variant Present in the following documents:

• Main text

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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: PAH: S231F

PubMed Link: 17924342

Variant Present in the following documents:

• Main text

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