Varaico: Literature-Extracted Genetic Variants

Gene:RARS2
Variant:p.Q12fs
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RARS2

NM_020320.5:p.Q12fs

Associated Papers

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

Cassandrini D et al.

Journal of Inherited Metabolic Disease, 2013

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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."