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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CASP3

Variant:p.K156I

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CASP3

NM_004346.4:p.K156I

hg38:chr4:184631781 T>A

Associated Papers

Molecular pathogenesis of polymerase γ-related neurodegeneration.

Tzoulis C et al.

Annals of Neurology, 2014

24841123 (PubMed )

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations.

Tzoulis C et al.

Brain : a Journal of Neurology, 2013

23625061 (PubMed )

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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."