Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.C334S
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PAH

NM_000277.3:p.C334S

Associated Papers

In silico screening and molecular dynamics simulation of deleterious PAH mutations responsible for phenylketonuria genetic disorder.

Lopez A et al.

Proteins, 2021

Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study.

Rottoli A et al.

Journal of Medical Screening, 1999

Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.

Eisensmith RC et al.

Pediatrics, 1996

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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."