Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.R400Splc
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PAH

NM_000277.3:p.R400Splc

Associated Papers

Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

Ferreira F et al.

Molecular Genetics & Genomic Medicine, 2021

Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.

Hamilton V et al.

Jimd Reports, 2018

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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."