Publications:

Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.

Genes

Pecimonova, Martina M; Kluckova, Daniela D; Csicsay, Frantisek F; Reblova, Kamila K; Krahulec, Jan J; Procházkova, Dagmar D; Skultety, Ludovit L; Kadasi, Ludevit L; Soltysova, Andrea A

Publication Date: 2019-06-15

Variant appearance in text: PAH: 599C>A; Thr200Asn

PubMed Link: 31208052

Variant Present in the following documents:

• Main text
• genes-10-00459.pdf

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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: T200N

PubMed Link: 30459323

Variant Present in the following documents:

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

View BVdb publication page