Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q355_Y356Splc
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PAH

NM_000277.3:p.Q355_Y356Splc

Associated Papers

Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai.

Zhang X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

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

Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.

Gu Y et al.

Plos One, 2014

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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."