Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.S395F
Back to variants list

TH

NM_000360.4:p.S395F

Associated Papers

Dopamine Transporter Deficiency Syndrome: A Case with Hyper- and Hypokinetic Extremes.

Nasehi MM et al.

Movement Disorders Clinical Practice, 2020

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.

Kurian MA et al.

The Lancet. Neurology, 2011

Rare causes of dystonia parkinsonism.

Schneider SA et al.

Current Neurology and Neuroscience Reports, 2010

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."