Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.D415delFs
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PAH

NM_000277.3:p.D415delFs

Associated Papers

Mutation Analysis of PAH Gene in Phenylketonuria Patients from the North of Iran: Identification of Three Novel Pathogenic Variants.

Jalali H et al.

International Journal of Preventive Medicine, 2024

Mutational landscape of phenylketonuria in Iran.

Ajami N et al.

Journal of Cellular and Molecular Medicine, 2023

37525467 (PubMed )
Supplement: JCMM-27-2457-s005.xlsx › Sheet1

Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.

Alibakhshi R et al.

Metabolic Brain Disease, 2021

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