Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S67C
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PAH

NM_000277.3:p.S67C

Associated Papers

Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.

Zhang H et al.

Frontiers in Genetics, 2025

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

Zhu J et al.

Peerj, 2024

39670100 (PubMed )
Supplement: peerj-12-18173-s001.xlsx › 36_cases_diagnosed_in_2019-2021

Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan.

Odagiri S et al.

International Journal of Neonatal Screening, 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."