Varaico: Literature-Extracted Genetic Variants

Gene:STK3
Variant:p.N428Y
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STK3

NM_006281.4:p.N428Y

Associated Papers

A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.

Iida A et al.

Cold Spring Harbor Molecular Case Studies, 2019

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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."