Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.Q1989*
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NSD1

NM_022455.5:p.Q1989*

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 analysis of head and neck cancer cases from two high incidence regions.

Perdomo S et al.

Plos One, 2018

29377909 (PubMed )
Supplement: pone.0191701.s007.xlsx › S3.Somatic_Mutations_SNVs_

NSD1- and NSD2-damaging mutations define a subset of laryngeal tumors with favorable prognosis.

Peri S et al.

Nature Communications, 2017

29176703 (PubMed )
Supplement: 41467_2017_1877_MOESM7_ESM.xlsx › Peri_et_al._Suppl._Data_5

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."