Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.V51L
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PAH

NM_000277.3:p.V51L

Associated Papers

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

Zhang H et al.

Frontiers in Genetics, 2025

Ethnic preference distribution of inborn errors of metabolism: A 4-year study in a multi-ethnic region of China.

Mao X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020

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."