Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P281Splc
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PAH

NM_000277.3:p.P281Splc

Associated Papers

Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays.

Poulsen L et al.

Plos One, 2011

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

Dobrowolski SF 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."