Varaico: Literature-Extracted Genetic Variants

Gene:MAGI2
Variant:p.L112fs
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MAGI2

NM_012301.4:p.L112fs

Associated Papers

Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.

Pierce SB et al.

Cold Spring Harbor Molecular Case Studies, 2016

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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."