Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.H1206_R1207insFs
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NSD1

NM_022455.5:p.H1206_R1207insFs

Associated Papers

Aortic dilation in Sotos syndrome: An underestimated feature?

Pezzani L et al.

American Journal of Medical Genetics. Part A, 2020

Severe connective tissue laxity including aortic dilatation in Sotos syndrome.

Hood RL et al.

American Journal of Medical Genetics. Part A, 2016

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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."