Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.A342S
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PAH

NM_000277.3:p.A342S

Associated Papers

Molecular Function and Contribution of TBX4 in Development and Disease.

Karolak JA et al.

American Journal of Respiratory and Critical Care Medicine, 2023

Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.

Yan Y et al.

Metabolic Brain Disease, 2019

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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."