Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.N748D
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NSD1

NM_022455.5:p.N748D

Associated Papers

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

Türkmen S et al.

European Journal of Human Genetics : Ejhg, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."