Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.E375delFs
Back to variants list

TH

NM_000360.4:p.E375delFs

Associated Papers

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

Protein-redistribution diet in a case of tyrosine hydroxylase enzyme deficiency.

Cassani E et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."