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Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome

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Correspondence to FRANCESCO NICITA.

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[Nicita F., Tarani L., Spalice A., Grasso M., Papetti L., Cecconi M., Biasi C., Ursitti F. and Iannetti P. 2011 Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome. J. Genet. 90, 147–150]

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NICITA, F., TARANI, L., SPALICE, A. et al. Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome. J Genet 90, 147–150 (2011). https://doi.org/10.1007/s12041-011-0032-7

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  • DOI: https://doi.org/10.1007/s12041-011-0032-7

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