Varaico: Literature-Extracted Genetic Variants

Gene:RPS6KA3
Variant:p.K304insFs
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RPS6KA3

NM_004586.3:p.K304insFs

Associated Papers

A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome.

Senel S et al.

Genetic Counseling (geneva, Switzerland), 2011

Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

Delaunoy JP et al.

Clinical Genetics, 2006

A female with Coffin-Lowry syndrome and "cataplexy".

Fryssira H et al.

Genetic Counseling (geneva, Switzerland), 2002

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

Delaunoy J et al.

Human Mutation, 2001

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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."