Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.C494*
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NSD1

NM_022455.5:p.C494*

Associated Papers

Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.

Testa B et al.

Genes, 2023

36833222 (PubMed )
Supplement: genes-14-00295-s001.zip › genes-2134420-supplementary.pdf

NSD1 Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint.

Conteduca G et al.

Life (basel, Switzerland), 2022

35888078 (PubMed )
Supplement: life-12-00988-s001.zip › life-1766636-supplementary.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_MOESM14_ESM.xlsx › Peri_et_al._Suppl._Data_12
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