Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E725*
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NF1

NM_001042492.3:p.E725*

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

Clinical Utility of Circulating Cell-Free DNA Mutations in Anaplastic Thyroid Carcinoma.

Qin Y et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Nagasawa S et al.

Communications Biology, 2021

33795819 (PubMed )
Supplement: 42003_2021_1959_MOESM9_ESM.xlsx › merge_mutation_filt_pair_contro

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.

Pros E et al.

Human Mutation, 2008

Combinatorial sequencing-by-hybridization: analysis of the NF1 gene.

Schirinzi A et al.

Genetic Testing, 2006

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

De Luca A et al.

Human Mutation, 2004

NF1 gene analysis based on DHPLC.

De Luca A et al.

Human Mutation, 2003

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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."