Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.E796fs
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NSD1

NM_022455.5:p.E796fs

Associated Papers

Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.

Fickie MR et al.

American Journal of Medical Genetics. Part A, 2011

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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."