Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.T238A
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PAH

NM_000277.3:p.T238A

Associated Papers

Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review.

Wang MW et al.

Journal of Neurology, 2023

Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

Li N et al.

Scientific Reports, 2015

Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.

Anjema K et al.

Orphanet Journal of Rare Diseases, 2013

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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."