Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.Q316*
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PRKN

NM_004562.3:p.Q316*

Associated Papers

Autosomal Recessive Cerebellar Ataxia-27 Caused by a Novel Loss-of-Function Variant of Ganglioside-Induced Differentiation Associated Protein 2 in a Spanish Family.

Erro ME et al.

Neurology. Genetics, 2025

Launching the movement disorders society genetic mutation database (MDSGene).

Lill CM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2016

Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations.

Puschmann A

Parkinsonism & Related Disorders, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."