Homo sapiens phenylalanine hydroxylase (PAH), transcript variant 1, mR - Nucleotide

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[Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase gene]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase gene].
Yang P, Sun Y, Wang X, Ma D, Wang Y, Zhang Z, Jiang T. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Mar 10; 41(3):278-283.
[In vitro expression and functional analyses of the mutants p.R243Q, p.R241C and p.Y356X of the human phenylalanine hydroxylase]. [Zhongguo Dang Dai Er Ke Za Zhi...]
[In vitro expression and functional analyses of the mutants p.R243Q, p.R241C and p.Y356X of the human phenylalanine hydroxylase].
Pang YH, Gao XY, Yuan ZY, Huang H, Wang ZQ, Peng L, Li YQ, Liu J, Liu D, Chen GR. Zhongguo Dang Dai Er Ke Za Zhi. 2024 Feb 15; 26(2):188-193.
Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need. [Am J Hum Genet. 2023]
Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need.
Brooks DL, Whittaker MN, Qu P, Musunuru K, Ahrens-Nicklas RC, Wang X. Am J Hum Genet. 2023 Dec 7; 110(12):2003-2014. Epub 2023 Nov 3.

RefSeq alternative splicing
See 4 reference mRNA sequence splice variants for the PAH gene.
RefSeq protein product
See the reference protein sequence for phenylalanine-4-hydroxylase (NP_000268.1).

Protein
Protein sequence from Nucleotide coding region
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Nucleotide