Varaico: Literature-Extracted Genetic Variants

Gene:AK9
Variant:p.G111Splc
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AK9

NM_001145128.3:p.G111Splc

Associated Papers

Adenylate Kinase: A Ubiquitous Enzyme Correlated with Medical Conditions.

Ionescu MI

The Protein Journal, 2019

Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.

Lam CW et al.

European Journal of Human Genetics : Ejhg, 2017

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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."