Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.H2021R
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NSD1

NM_022455.5:p.H2021R

Associated Papers

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

Three novel mutations in greek sotos patients with rare clinical manifestations.

Leventopoulos G et al.

Hormone Research, 2009

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.

Saugier-Veber P et al.

Human Mutation, 2007

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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."