Varaico: Literature-Extracted Genetic Variants

Gene:AK2
Variant:p.M110_L111Splc
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AK2

NM_001625.4:p.M110_L111Splc

Associated Papers

Reticular dysgenesis caused by an intronic pathogenic variant in AK2.

Ichikawa S et al.

Cold Spring Harbor Molecular Case Studies, 2020

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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."