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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAH

Variant:p.E66fs

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PAH

NM_000277.3:p.E66fs

hg38:chr12:102894891 TTC>N

Associated Papers

Molecular genetics and diagnosis of phenylketonuria: state of the art.

Blau N et al.

Expert Review of Molecular Diagnostics, 2014

24882081 (PubMed )

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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."