Varaico: Literature-Extracted Genetic Variants

Gene:TACR1
Variant:p.R311Splc
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TACR1

NM_001058.4:p.R311Splc

Associated Papers

Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia.

Gundorova P et al.

Plos One, 2019

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."