Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Y268H
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PAH

NM_000277.3:p.Y268H

Associated Papers

A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population.

Gemperle-Britschgi C et al.

Gene, 2016

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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."