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: 499A>T; Asn167Tyr

PubMed Link: 31208052

Variant Present in the following documents:

• Main text
• genes-10-00459.pdf

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: PAH: N167Y

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 14

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