Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.S536*
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NF1

NM_001042492.3:p.S536*

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

Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.

Scollon S et al.

Jco Precision Oncology, 2025

41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf

Genomic alteration discordance in the paired primary-recurrent ovarian cancers: based on the comprehensive genomic profiling (CGP) analysis.

Dong J et al.

Journal of Ovarian Research, 2024

38937827 (PubMed )
Supplement: 13048_2024_1455_MOESM7_ESM.xlsx › Table_S2

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

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

Messiaen LM et al.

Human Mutation, 2000

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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."