Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.S1024*
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NSD1

NM_022455.5:p.S1024*

Associated Papers

Germline variants in patients developing second malignant neoplasms after therapy for pediatric acute lymphoblastic leukemia-a case-control study.

Junk SV et al.

Leukemia, 2024

Clinical and genomic characterization of chemoradiation-resistant HPV-positive oropharyngeal squamous cell carcinoma.

Guo T et al.

Frontiers in Oncology, 2024

38505587 (PubMed )
Supplement: Table_2.xlsx › Patient_3

NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.

Romero VI et al.

Bmc Genomics, 2022

36550402 (PubMed )
Supplement: 12864_2022_9071_MOESM2_ESM.xlsx › Sup_Table_1

APOBEC3A is an oral cancer prognostic biomarker in Taiwanese carriers of an APOBEC deletion polymorphism.

Chen TW et al.

Nature Communications, 2017

28878238 (PubMed )
Supplement: 41467_2017_493_MOESM5_ESM.xlsx › CCP_MAF_TS6

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.

Saugier-Veber P et al.

Human Mutation, 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."