Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S303fs
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PAH

NM_000277.3:p.S303fs

Associated Papers

Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families.

Xiao Y et al.

Chinese Medical Journal, 2021

34039861 (PubMed )
Supplement: cm9-134-1626-s001.pdf

Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population.

Li X et al.

Frontiers in Genetics, 2021

Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

Liu N et al.

Bmc Medical Genetics, 2018

Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

Li N et al.

Scientific Reports, 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."