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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PINK1

Variant:p.Y156F

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PINK1

NM_032409.3:p.Y156F

hg38:chr1:20637921 A>T

Associated Papers

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

Tzoulis C et al.

Brain : a Journal of Neurology, 2013

23625061 (PubMed )

POLG mutations and Alpers syndrome.

Davidzon G et al.

Annals of Neurology, 2005

15929042 (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."