Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.R1984G
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NSD1

NM_022455.5:p.R1984G

Associated Papers

Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome.

Lu Y et al.

Journal of Pediatric Genetics, 2017

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

Genotype-phenotype correlation in patients suspected of having Sotos syndrome.

de Boer L et al.

Hormone Research, 2004

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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."