Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.R252L
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PAH

NM_000277.3:p.R252L

Associated Papers

Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.

Tokatly Latzer I et al.

Human Genetics, 2023

Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.

Latzer IT et al.

Research Square, 2023

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