Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.D491H
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TH

NM_199292.3:p.D491H

Associated Papers

Phenotypic, Genotypic Characteristics, and Treatment Strategies of Pediatric Tyrosine Hydroxylase Deficiency: A Single-Center Retrospective Analysis of 51 Cases.

Ban T et al.

Movement Disorders Clinical Practice, 2025

Establishment of a non-integrated iPSC (SDQLCHi066-A) line derived from Segawa syndrome patients harboring heterozygous mutations in the TH gene (p.G247S and p.D491H).

Zhang X et al.

Stem Cell Research, 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."