Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q1360fs
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NF1

NM_001042492.3:p.Q1360fs

Associated Papers

Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.

Fei H et al.

Orphanet Journal of Rare Diseases, 2025

40410838 (PubMed )
Supplement: 13023_2025_3807_MOESM1_ESM.xlsx › Supplementary_Table_2

Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.

Halik A et al.

Journal of Hematology & Oncology, 2024

39160538 (PubMed )
Supplement: 13045_2024_1590_MOESM1_ESM.xlsx › Suppl._Dataset_4_TS_SNV

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

Paterra R et al.

Cancers, 2022

Clinical and molecular characterization of neurofibromatosis in southern Brazil.

Rosset C et al.

Expert Review of Molecular Diagnostics, 2018

Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I.

Xu M et al.

Frontiers in Genetics, 2018

30087692 (PubMed )
Supplement: Table_1.XLSX › ____
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