Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.A37fs
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C19orf12

NM_031448.6:p.A37fs

Associated Papers

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

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.

Angelini C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2023

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