Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.F1247fs
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NF1

NM_001042492.3:p.F1247fs

Associated Papers

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Unraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands.

Wang R et al.

Orphanet Journal of Rare Diseases, 2025

40462134 (PubMed )
Supplement: 13023_2025_3759_MOESM2_ESM.xlsx › Sheet1

Comprehensive genomic and transcriptomic analysis enables molecularly guided therapy options in peritoneal and pleural mesothelioma.

Möhrmann L et al.

Esmo Open, 2025

40174508 (PubMed )
Supplement: mmc4.docx

Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.

Lucas CG et al.

Neuro-oncology, 2025

39560080 (PubMed )
Supplement: noae214_suppl_supplementary_tables.xlsx › Table_S5

NF1 expression profiling in IDH-wildtype glioblastoma: genomic associations and survival outcomes.

Chang M et al.

Acta Neuropathologica Communications, 2024

39472976 (PubMed )
Supplement: 40478_2024_1875_MOESM5_ESM.xlsx › Supplementary_Table_1

A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.

Paterra R et al.

Cancers, 2022

Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.

Zhang Y et al.

Neuro-oncology, 2022

35395677 (PubMed )
Supplement: noac089_suppl_supplementary_tables_s1-s11.xlsx › Table_S5_SNV_data

Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.

Lucas CG et al.

Acta Neuropathologica, 2022

35945463 (PubMed )
Supplement: 401_2022_2478_MOESM1_ESM.xlsx › Table_S5

Mutational landscape of normal epithelial cells in Lynch Syndrome patients.

Lee BCH et al.

Nature Communications, 2022

35581206 (PubMed )
Supplement: 41467_2022_29920_MOESM3_ESM.xlsx › SD4

Characterization of Aberrations in DNA Damage Repair Pathways in Gastrointestinal Stromal Tumors: The Clinicopathologic Relevance of γH2AX and 53BP1 in Correlation with Heterozygous Deletions of CHEK2, BRCA2, and RB1.

Liu TT et al.

Cancers, 2022

WITHDRAWN: Clinical findings and mutational spectrum of neurofibromatosis type 1 patients in a single center of south part of Turkey.

Demir Gündoğan B et al.

Turkish Journal of Medical Sciences, 2021

Prospective Feasibility Trial for Genomics-Informed Treatment in Recurrent and Progressive Glioblastoma.

Byron SA et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Chalmers ZR et al.

Genome Medicine, 2017

28420421 (PubMed )
Supplement: 13073_2017_424_MOESM7_ESM.xlsx › Sheet1
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