Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.R110*
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ERN1

NM_001433.5:p.R110*

Associated Papers

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

Delaunoy J et al.

Human Mutation, 2001

Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.

Jacquot S et al.

American Journal of Human 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."