Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R160Splc
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NF1

NM_001042492.3:p.R160Splc

Associated Papers

Fumarate hydratase-mutant glioma with giant-cell histology, MSH6 mutation, and hypermutation.

Mafficini A et al.

Journal of Neuropathology and Experimental Neurology, 2025

NF1 Gene Inactivation Acts as Tumor Driver in RET/RAS Negative Medullary Thyroid Carcinomas.

Ciampi R et al.

European Journal of Endocrinology, 2023

IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Barresi V et al.

Acta Neuropathologica Communications, 2021

34952640 (PubMed )
Supplement: 40478_2021_1304_MOESM3_ESM.xlsx › Supplementary_Table_2

WITHDRAWN: Clinical findings and mutational spectrum of neurofibromatosis type 1 patients in a single center of south part of Turkey.

Demir Gündoğan B et al.

Turkish Journal of Medical Sciences, 2021

Diffuse Gliomas of the Brainstem and Cerebellum in Adults Show Molecular Heterogeneity.

Eschbacher KL et al.

The American Journal of Surgical Pathology, 2021

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.

Santoro C et al.

Plos One, 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."