Varaico: Literature-Extracted Genetic Variants

Gene:AOPEP
Variant:p.L307S
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AOPEP

NM_001193329.3:p.L307S

Associated Papers

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

Dutta D et al.

Parkinsonism & Related Disorders, 2026

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

Boesch S et al.

Journal of Medical Genetics, 2025

Mutation screening of AOPEP variants in a large dystonia cohort.

Lin J et al.

Journal of Neurology, 2023

Expanded Genetic Spectrum and Variable Disease Onset in AOPEP-Associated Dystonia.

Menden B et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

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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."