euL1db
The European database of L1-HS retrotransposon insertions in humans

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Study ID   Martinez-Garay2003
Citation:  
Martinez-Garay, I., Ballesta, M.J., Oltra, S., Orellana, C., Palomeque, A., Molto, M.D., Prieto, F. and Martinez, F. (2003) Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome. Clin Genet, 64, 491-496.
Pubmed:   PMID:14986828




         Description
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causingCoffin-Lowry syndrome.


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