Varaico: Literature-Extracted Genetic Variants

Gene:AOPEP
Variant:p.E637*
Back to variants list

AOPEP

NM_001193329.3:p.E637*

Associated Papers

DYT-AOPEP: A case series from India expanding the clinical and genetic spectrum.

Dutta D et al.

Parkinsonism & Related Disorders, 2026

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf

Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia.

Ahmadipour M et al.

Annals of Clinical and Translational Neurology, 2025

40539305 (PubMed )
Supplement: ACN3-12-1660-s001.pdf

AOPEP-related autosomal recessive dystonia: update on Zech-Boesch syndrome.

Boesch S et al.

Journal of Medical Genetics, 2025

Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes.

Kaymak A et al.

Annals of Neurology, 2025

Mutation screening of AOPEP variants in a large dystonia cohort.

Lin J et al.

Journal of Neurology, 2023

AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.

Garavaglia B et al.

Parkinsonism & Related Disorders, 2022

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."