Varaico: Literature-Extracted Genetic Variants

Gene:HPSE
Variant:p.Q241*
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HPSE

NM_001098540.3:p.Q241*

Associated Papers

The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China.

Wang Q et al.

Orphanet Journal of Rare Diseases, 2025

An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.

Vela-Amieva M et al.

Genes, 2021

Mutational spectrum of phenylketonuria in Jiangsu province.

Chen YF et al.

European Journal of Pediatrics, 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."