Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.P407S
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TH

NM_000360.4:p.P407S

Associated Papers

A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria.

Erlandsen H et al.

Journal of Inherited Metabolic Disease, 2001

Biopterin responsive phenylalanine hydroxylase deficiency.

Matalon R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."