Varaico: Literature-Extracted Genetic Variants

Gene:RRBP1
Variant:p.V57G
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RRBP1

NM_001365613.2:p.V57G

Associated Papers

Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity.

Richardson JP et al.

Molecular and Cellular Biology, 2004

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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."