Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.W2032*
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NSD1

NM_022455.5:p.W2032*

Associated Papers

Sotos Syndrome With NSD1 Mutations in a Chinese Cohort: Identification of Two Novel Mutations and Literature Review.

Zhao J et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025

A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review.

Liu X et al.

Brain and Behavior, 2023

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
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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."