Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.W1236_D1237Splc
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NF1

NM_001042492.3:p.W1236_D1237Splc

Associated Papers

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_after_120d_TISF

Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid.

Sheng Z et al.

Frontiers in Oncology, 2023

37920153 (PubMed )
Supplement: Table_1.xlsx › Table_S4.__Targetable_variants

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Melloni G et al.

Cancers, 2019

Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants.

Ulusal SD et al.

Balkan Journal of Medical Genetics : Bjmg, 2017

Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.

Paria N et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014

Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.

Xu W et al.

International Journal of Molecular Medicine, 2014

Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Laycock-van Spyk S et al.

Human Genomics, 2011

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.

Pros E et al.

Human Mutation, 2008

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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."