Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R1970fs
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NF1

NM_001042492.3:p.R1970fs

Associated Papers

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_2

Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.

Riva M et al.

Genes, Chromosomes & Cancer, 2022

Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care.

Muller E et al.

Cancer Medicine, 2015

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