Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P279L
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PAH

NM_000277.3:p.P279L

Associated Papers

AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria.

Richards DY et al.

Molecular Therapy. Methods & Clinical Development, 2020

The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles.

Kostandyan N et al.

Molecular Genetics and Metabolism, 2011

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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."