Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.N420_S421Splc
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NF1

NM_001042492.3:p.N420_S421Splc

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: mmc5.xlsx › Foglio1

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.

Frayling IM et al.

Journal of Medical Genetics, 2019

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

Stewart DR et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

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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."