Varaico: Literature-Extracted Genetic Variants

Gene:GNAL
Variant:p.Q154_K155delFs
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GNAL

NM_182978.4:p.Q154_K155delFs

Associated Papers

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

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

Kaymak A et al.

Annals of Neurology, 2025

A novel GNAL pathogenic variant leading to generalized dystonia: Immediate and sustained response to globus pallidus internus deep brain stimulation.

Romito LM et al.

Parkinsonism & Related Disorders, 2023

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