Varaico: Literature-Extracted Genetic Variants

Gene:POLR2J
Variant:p.N2K
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POLR2J

NM_006234.6:p.N2K

Associated Papers

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.

Rydning SL et al.

Brain : a Journal of Neurology, 2019

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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."