Varaico: Literature-Extracted Genetic Variants

Gene:RPS6KA3
Variant:p.T231I
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RPS6KA3

NM_004586.3:p.T231I

Associated Papers

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.

Zeniou M et al.

American Journal of Human Genetics, 2002

Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

Delaunoy J et al.

Human Mutation, 2001

Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.

Merienne K et al.

Journal of Medical Genetics, 1998

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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."