Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.K601*
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NSD1

NM_022455.5:p.K601*

Associated Papers

Prenatal Diagnosis of Sotos Syndrome: Integrating Chromosomal Microarray Analysis and Exome Sequencing.

Yang X et al.

Prenatal Diagnosis, 2026

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.

Jeffries AR et al.

Genome Research, 2019

31160375 (PubMed )
Supplement: supp_gr.243584.118_Supplemental_Material.pdf

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_MOESM6_ESM.xlsx › Peri_et_al._Suppl._Data_4

NSD1 mutations generate a genome-wide DNA methylation signature.

Choufani S et al.

Nature Communications, 2015

26690673 (PubMed )
Supplement: ncomms10207-s2.xlsx › Suppl._Data_1
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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."