Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E1266*
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NF1

NM_001042492.3:p.E1266*

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

Genetic Risk Factors and Clinical Outcomes in Childhood Eye Cancers: A Review.

Hameed S et al.

Genes, 2024

Molecular and clinicopathologic characterization of pediatric histiocytoses.

Hélias-Rodzewicz Z et al.

American Journal of Hematology, 2023

Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Boot A et al.

Genome Research, 2020

32661091 (PubMed )
Supplement: supp_gr.255620.119_Supplemental_Table_S2.xlsx › Sheet1

Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.

Wu-Chou YH et al.

Journal of Biomedical Science, 2018

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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."