Varaico: Literature-Extracted Genetic Variants

Gene:KPNA7
Variant:p.E344Q
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KPNA7

NM_001145715.3:p.E344Q

Associated Papers

An epilepsy-associated mutation in the nuclear import receptor KPNA7 reduces nuclear localization signal binding.

Oostdyk LT et al.

Scientific Reports, 2020

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."