Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L249H
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PAH

NM_000277.3:p.L249H

Associated Papers

Phenylketonuria mutations in Northern China.

Song F et al.

Molecular Genetics and Metabolism, 2005

Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.

Jennings IG et al.

European Journal of Human Genetics : Ejhg, 2000

Mutations identified in exon 7 of phenylalanine hydroxylase gene in Chinese.

Sun G et al.

Chinese Medical Sciences Journal = Chung-kuo I Hsueh K'o Hsueh Tsa Chih, 1997

[Novel mutations identified in exon 7 of phenylalanine hydroxylase gene in Chinese].

Sun G et al.

Yi Chuan Xue Bao = Acta Genetica Sinica, 1997

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."