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#2022-02-21 #Summary This ZIP-file contains the data files used for all analyses for the manuscript "A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2". #File structure README.txt This README file. File S02 ("FileS02_NSD2-clinical-information-and-variants.xlsx") Clinical data of GoF and LoF inidviduals used for Table 1 and Table 2 and genetic variant data used for Figure 2. File S03 ("FileS03_NSD2-CCLE-analyses.xlsx") Tables containing information of the CCLE analyses and depmap results used for Figure 3A-D. File S04 ("FileS04_humanbase_global_1642958821189.tar.gz") Tar.gz file of the downlaoded humanbase result files used for Figure 3E. #Files and checksums 5FE613FC7646419C20153068E8D5F463 ./FileS02_NSD2-clinical-information-and-variants.xlsx AC53634E6044469BE42DBBE8F7503275 ./FileS03_NSD2-CCLE-analyses.xlsx 7AE58A28A4D1E1462521A37522BB78B6 ./FileS04_humanbase_global_1642958821189.tar.gz
NSD2, gain-of-function, Glu1099Lys, neurodevelopmental disorder, Rauch-Steindl syndrome, Wolf-Hirschhorn syndrome
NSD2, gain-of-function, Glu1099Lys, neurodevelopmental disorder, Rauch-Steindl syndrome, Wolf-Hirschhorn syndrome
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