Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.S1183fs
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NSD1

NM_022455.5:p.S1183fs

Associated Papers

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_

Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.

Fickie MR et al.

American Journal of Medical Genetics. Part A, 2011

Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients.

Duno M et al.

Annals of Human Genetics, 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."