Varaico: Literature-Extracted Genetic Variants

Gene:SRPK3
Variant:p.E529K
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SRPK3

NM_014370.4:p.E529K

Associated Papers

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.

Roychaudhury A et al.

Annals of Neurology, 2024

Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability.

Lee YR et al.

Research Square, 2023

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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."