Varaico: Literature-Extracted Genetic Variants

Gene:ZNF343
Variant:p.L565L
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ZNF343

NM_024325.6:p.L565L

Associated Papers

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.

Kobayashi H et al.

American Journal of Human Genetics, 2011

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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."