Varaico: Literature-Extracted Genetic Variants

Gene:SV2A
Variant:p.E182D
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SV2A

NM_014849.5:p.E182D

Associated Papers

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.

Zampieri S et al.

European Journal of Human Genetics : Ejhg, 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."