Associated Papers
Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.
Iengar P et al.
Computational Biology and Chemistry, 2026
Coffin-Lowry Syndrome Induced by RPS6KA3 Gene Variation in China: A Case Report in Twins.
Jin H et al.
Medicina (kaunas, Lithuania), 2022
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
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
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
Cognitive function in Coffin-Lowry syndrome.
Simensen RJ et al.
Clinical Genetics, 2002
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
Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).
Abidi F et al.
European Journal of Human Genetics : Ejhg, 1999
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