Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S303fs
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PAH

NM_000277.3:p.S303fs

Associated Papers

The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China.

Wang Q et al.

Orphanet Journal of Rare Diseases, 2025

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.

Zhu J et al.

Peerj, 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."