Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.E2015_L2016insA
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SETX

NM_015046.7:p.E2015_L2016insA

Associated Papers

Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2.

Ngo KJ et al.

Molecular Medicine (cambridge, Mass.), 2025

40413398 (PubMed )
Supplement: 10020_2025_1257_MOESM4_ESM.xlsx › TableS1_-Study_Cohort_Detailed

Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.

Fogel BL et al.

Human Molecular Genetics, 2014

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