Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q419K
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PAH

NM_000277.3:p.Q419K

Associated Papers

DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.

Çıkı K et al.

Metabolic Brain Disease, 2021

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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."