Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P211L
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PAH

NM_000277.3:p.P211L

Associated Papers

The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase.

Aubi O et al.

Nature Communications, 2021

Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.

Gundorova P et al.

Plos One, 2018

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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."