Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Desviat LR, Pérez B, Gámez A, Sánchez A, García MJ, Martínez-Pardo M,
Marchante C, Bóveda D, Baldellou A, Arena J, Sanjurjo P, Fernández A, Cabello ML,
Ugarte M. Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency
in Spain: molecular survey by regions. Eur J Hum Genet. 1999 Apr;7(3):386-92.
PubMed PMID: 10234516.
This variant is implicated in autosomal recessive mild hyperphenylalaninemia in 8.6% of 93 patients as a compound heterozygote in Spain.