Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P281Splc
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PAH

NM_000277.3:p.P281Splc

Associated Papers

Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).

Adams AD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

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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."