Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.I719fs
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NF1

NM_001042492.3:p.I719fs

Associated Papers

Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.

Tao K et al.

Cancer Science, 2026

41249692 (PubMed )
Supplement: CAS-117-522-s002.xlsx › Table_S4

Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.

Zheng Y et al.

Human Molecular Genetics, 2025

40719757 (PubMed )
Supplement: supplemental-tabless1-4_clean_ddaf108.xlsx › Table-S4-VariantsDistribution

Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.

Ha C et al.

Genes, 2021

34573290 (PubMed )
Supplement: genes-12-01308-s001.zip › Table_S1.xlsx › NF1_Variants

Genomic Profiling Identified Novel Prognostic Biomarkers in Chinese Midline Glioma Patients.

Li H et al.

Frontiers in Oncology, 2020

33747896 (PubMed )
Supplement: Table_1.xlsx › Table_S2
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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."