Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.P1809T
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NF1

NM_001042492.3:p.P1809T

Associated Papers

Cancer risk assessment of premalignant breast tissues from patients with BRCA mutations by genome profiling.

Hirose T et al.

Npj Breast Cancer, 2024

39366967 (PubMed )
Supplement: 41523_2024_693_MOESM3_ESM.xlsx › Supplementary_Data_3

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

Low U1 snRNP dependence at the NF1 exon 29 donor splice site.

Raponi M et al.

The Febs Journal, 2009

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