Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Y80_L81delFs
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NF1

NM_001042492.3:p.Y80_L81delFs

Associated Papers

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › B_Tissue_as_normal

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276.

Selig M et al.

Febs Open Bio, 2025

A novel multion in a Chinese family with neurofibromatosis type 1: A case report.

Tao X et al.

Medicine, 2025

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.

Safonov A et al.

Nature Communications, 2025

40169570 (PubMed )
Supplement: 41467_2025_57077_MOESM3_ESM.xlsx › Supplementary_Data_4

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1
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