Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E595delFs
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NF1

NM_001042492.3:p.E595delFs

Associated Papers

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Di Giosaffatte N et al.

Breast (edinburgh, Scotland), 2025

41218342 (PubMed )
Supplement: mmc4.xlsx › Foglio1

Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.

Fei H et al.

Orphanet Journal of Rare Diseases, 2025

40410838 (PubMed )
Supplement: 13023_2025_3807_MOESM1_ESM.xlsx › Supplementary_Table_2

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.

Napolitano F et al.

Genes, 2022

Alternative lengthening of telomeres, ATRX loss and H3-K27M mutations in histologically defined pilocytic astrocytoma with anaplasia.

Rodriguez FJ et al.

Brain Pathology (zurich, Switzerland), 2019

Children with 5'-end NF1 gene mutations are more likely to have glioma.

Anastasaki C et al.

Neurology. Genetics, 2017

28955729 (PubMed )
Supplement: supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf
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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."