Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.R632*
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NSD1

NM_022455.5:p.R632*

Associated Papers

NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.

Romero VI et al.

Bmc Genomics, 2022

36550402 (PubMed )
Supplement: 12864_2022_9071_MOESM2_ESM.xlsx › Sup_Table_1

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

Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Wang Y et al.

Frontiers in Oncology, 2019

30886832 (PubMed )
Supplement: Table_2.xls › Table_2

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

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

Cecconi M et al.

American Journal of Medical Genetics. Part A, 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."