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Literature summary for 2.7.11.1 extracted from

  • Jacquot, S.; Merienne, K.; De Cesare, D.; Pannetier, S.; Mandel, J.L.; Sassone-Corsi, P.; Hanauer, A.
    Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations (1998), Am. J. Hum. Genet., 63, 1631-1640.
    View publication on PubMedView publication on EuropePMC

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens mutations in the ribosomal S6 kinase (Rsk-2) gene are associated with Coffin-Lowry syndrome, an X-linked disorder characterized by facial dysmorphism, digit abnormalities and severe psychomotor retardation ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens P51812
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information mutations in the ribosomal S6 kinase (Rsk-2) gene are associated with Coffin-Lowry syndrome, an X-linked disorder characterized by facial dysmorphism, digit abnormalities and severe psychomotor retardation Homo sapiens ?
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?

Synonyms

Synonyms Comment Organism
ribosomal protein S6 kinase alpha 3
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Homo sapiens