Varaico: Literature-Extracted Genetic Variants

Gene:FGF8
Variant:p.R233H
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FGF8

NM_033163.5:p.R233H

Associated Papers

Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model.

Jung-Kc K et al.

Journal of Inherited Metabolic Disease, 2024

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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."