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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VPS16

Variant:p.R401_A402Splc

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VPS16

NM_022575.4:p.R401_A402Splc

hg38:chr20:2862805 A>G

Associated Papers

Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study.

Svorenova T et al.

Annals of Neurology, 2025

40539388 (PubMed )

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

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