Varaico: Literature-Extracted Genetic Variants

Gene:HPSE
Variant:p.K274_M278delFs
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HPSE

NM_001098540.3:p.K274_M278delFs

Associated Papers

Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.

Réblová K et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013

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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."