Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.Q408*
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TYR

NM_000372.5:p.Q408*

Associated Papers

The Influence of Phenylalanine Fluctuations and Intake on a 24 h Sapropterin Responsiveness Test in Patients with Phenylketonuria.

Nunes AJ et al.

Children (basel, Switzerland), 2025

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Martín-Rivada Á et al.

Jimd Reports, 2022

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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."