Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.W421*
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NSD1

NM_022455.5:p.W421*

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

NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.

Sandoval-Talamantes AK et al.

Genes, 2023

38003033 (PubMed )
Supplement: genes-14-02091-s001.zip › genes-2581930-supplementary › Supplemental.pdf

Genomic Instability Signature of Palindromic Non-Coding Somatic Mutations in Bladder Cancer.

Vacher S et al.

Cancers, 2020

33049910 (PubMed )
Supplement: cancers-12-02882-s001.zip › cancers-960774-Supplementary_materials.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

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."