Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L1246fs
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NF1

NM_001042492.3:p.L1246fs

Associated Papers

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1

The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.

Ayala R et al.

Cancers, 2021

34070172 (PubMed )
Supplement: cancers-13-02458-s001.zip › cancers-1203671-supplementary › Table_S8.xlsx › Hoja2

Integrated molecular and clinical analysis of low-grade gliomas in children with neurofibromatosis type 1 (NF1).

Fisher MJ et al.

Acta Neuropathologica, 2021

Comprehensive analysis of diverse low-grade neuroepithelial tumors with FGFR1 alterations reveals a distinct molecular signature of rosette-forming glioneuronal tumor.

Lucas CG et al.

Acta Neuropathologica Communications, 2020

32859279 (PubMed )
Supplement: 40478_2020_1027_MOESM1_ESM.xlsx › Table_S2_SNV_data

Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history.

Chan AK et al.

Clinical Neuropathology, 0

Temporospatial genomic profiling in glioblastoma identifies commonly altered core pathways underlying tumor progression.

Blomquist MR et al.

Neuro-oncology Advances, 0

32743548 (PubMed )
Supplement: vdaa078_suppl_supplementary_table_9.xlsx › SomaticMutations
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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."