Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.N376delFs
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PAH

NM_000277.3:p.N376delFs

Associated Papers

Mutational landscape of phenylketonuria in Iran.

Ajami N et al.

Journal of Cellular and Molecular Medicine, 2023

37525467 (PubMed )
Supplement: JCMM-27-2457-s007.xlsx › Sheet1

An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.

Vela-Amieva M et al.

Genes, 2021

Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.

Vela-Amieva M et al.

Clinical Genetics, 2015

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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."