Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.L273F
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TH

NM_199292.3:p.L273F

Associated Papers

Genetic and clinical profile of a Brazilian cohort of dopa-responsive dystonia.

de Alencar Guerra A et al.

Journal of the Neurological Sciences, 2025

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.

Mastrangelo M et al.

Genes, 2023

36833190 (PubMed )
Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › TH_Short_Var_Pathogenetic

Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot?

Dworniczak B et al.

Human Mutation, 1992

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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."