Varaico: Literature-Extracted Genetic Variants

Gene:SRPK3
Variant:p.T458N
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SRPK3

NM_014370.4:p.T458N

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

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.

Gall T et al.

Frontiers in Medicine, 2017

ATP1A3 Mutation in Adult Rapid-Onset Ataxia.

Sweadner KJ et al.

Plos One, 2016

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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."