Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.M68I
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NF1

NM_001042492.3:p.M68I

Associated Papers

RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity.

Bonetti E et al.

Human Genomics, 2025

40887659 (PubMed )
Supplement: 40246_2025_803_MOESM3_ESM.xlsx › Sheet_1

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 › ____

Children with 5'-end NF1 gene mutations are more likely to have glioma.

Anastasaki C et al.

Neurology. Genetics, 2017

28955729 (PubMed )
Supplement: supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf
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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."