Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.I283V
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PAH

NM_000277.3:p.I283V

Associated Papers

Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.

Aldámiz-Echevarría L et al.

Journal of Human Genetics, 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."