Varaico: Literature-Extracted Genetic Variants

Gene:SLC8A2
Variant:p.P29L
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SLC8A2

NM_015063.3:p.P29L

Associated Papers

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.

Lee H et al.

Human Molecular Genetics, 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."