Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.N2020S
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NSD1

NM_022455.5:p.N2020S

Associated Papers

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single-Center Experience.

Viswanathan A et al.

American Journal of Medical Genetics. Part A, 2025

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.

Ha K et al.

Genes, 2016

NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.

Waggoner DJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005

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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."