Varaico: Literature-Extracted Genetic Variants

Gene:HPSE
Variant:p.L83fs
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HPSE

NM_001098540.3:p.L83fs

Associated Papers

Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.

Tebieva IS et al.

International Journal of Molecular Sciences, 2024

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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."