Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.M327_G328insCT
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PRKN

NM_004562.3:p.M327_G328insCT

Associated Papers

Case Series of Cerebellar Ataxia with Tremor Due to Heterozygous STUB1 Variants (SCA48) without TBP Expansions: Further Evidence for SCA48 as a Monogenic Disease.

Zochowski Y et al.

Cerebellum (london, England), 2024

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