Homo sapiens phenylalanine hydroxylase (PAH), transcript variant 2, mR - Nucleotide

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Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. [Int J Mol Sci. 2024]
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.
Tebieva IS, Mishakova PV, Gabisova YV, Khokhova AV, Kaloeva TG, Marakhonov AV, Shchagina OA, Polyakov AV, Ginter EK, Kutsev SI, et al. Int J Mol Sci. 2024 Apr 23; 25(9). Epub 2024 Apr 23.
Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye. [J Pediatr Endocrinol Metab. 2024]
Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye.
Alavanda C, Ceylan Eİ, Kılavuz S, Çıkı K. J Pediatr Endocrinol Metab. 2024 Jun 25; 37(6):543-552. Epub 2024 May 7.
[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.

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_001341233.1).

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Nucleotide