Varaico: Literature-Extracted Genetic Variants

Gene:AMPD2
Variant:p.V307L
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AMPD2

NM_001368809.2:p.V307L

Associated Papers

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

Li Z et al.

Journal of Human Genetics, 2015

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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."