Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Y154*
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PAH

NM_000277.3:p.Y154*

Associated Papers

206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China.

Xiao G et al.

Frontiers in Genetics, 2024

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

Xi Y et al.

Molecular Genetics & Genomic Medicine, 2020

32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf

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

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

Liu N et al.

Bmc Medical Genetics, 2017

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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."