Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E470*
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NF1

NM_001042492.3:p.E470*

Associated Papers

Whole-miRNome sequencing: a panel for the targeted sequencing of all human miRNA genes.

Galka-Marciniak P et al.

Nucleic Acids Research, 2025

40867048 (PubMed )
Supplement: gkaf812_supplemental_files.zip › Supplementary_Table_S5_List_of_mutations_cancer_samples.xlsx › cancer_drivers

Sequencing of cerebrospinal fluid cell-free DNA facilitated early differential diagnosis of intramedullary spinal cord tumors.

Chai R et al.

Npj Precision Oncology, 2024

Pelvic Carcinosarcoma Showing a Diverse Histology and Hierarchical Gene Mutation with a Common POLE Mutation to Endometrial Endometroid Carcinoma: A Case Report.

Kitazono I et al.

International Journal of Surgical Pathology, 2022

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.

Long Q et al.

Frontiers in Genetics, 2022

35846154 (PubMed )
Supplement: Table3.XLSX › BLCA_DNA_only

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM3_ESM.xlsx › Sheet1

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM14_ESM.xlsx › Sheet1

Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.

Rusch M et al.

Nature Communications, 2018

30262806 (PubMed )
Supplement: 41467_2018_6485_MOESM10_ESM.xlsx › 7A.ALL_PATHOLOGIC_FINDINGS

Impact of genomic profiling on the treatment and outcomes of patients with advanced gastrointestinal malignancies.

Dhir M et al.

Cancer Medicine, 2017

28028924 (PubMed )
Supplement: CAM4-6-195-s001.xlsx › Sheet1

The genomic landscape of hypodiploid acute lymphoblastic leukemia.

Holmfeldt L et al.

Nature Genetics, 2013

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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."