Varaico: Literature-Extracted Genetic Variants

Gene:KPNA2
Variant:p.E354Q
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KPNA2

NM_002266.4:p.E354Q

Associated Papers

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.

Paciorkowski AR et al.

European Journal of Human Genetics : Ejhg, 2014

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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."