Associated Papers
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Post-translational modifications at the ATP-positioning G-loop that regulate protein kinase activity.
Steinberg SF
Pharmacological Research, 2018
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
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
Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).
Abidi F et al.
European Journal of Human Genetics : Ejhg, 1999
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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