Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.S985fs
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NSD1

NM_022455.5:p.S985fs

Associated Papers

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.

Bukowska-Olech E et al.

Frontiers in Molecular Biosciences, 2022

Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.

Castro MAA et al.

American Journal of Medical Genetics. Part A, 2021

Aortic dilation in Sotos syndrome: An underestimated feature?

Pezzani L et al.

American Journal of Medical Genetics. Part A, 2020

Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example.

Pohjola P et al.

Genetic Testing and Molecular Biomarkers, 2012

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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."