Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S251A
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PAH

NM_000277.3:p.S251A

Associated Papers

In silico thermodynamics stability change analysis involved in BH4 responsive mutations in phenylalanine hydroxylase: QM/MM and MD simulations analysis.

Chadha N et al.

Journal of Biomolecular Structure & Dynamics, 2015

Reversing the substrate specificities of phenylalanine and tyrosine hydroxylase: aspartate 425 of tyrosine hydroxylase is essential for L-DOPA formation.

Daubner SC et al.

Biochemistry, 2000

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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."