Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.T2423fs
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NF1

NM_000267.3:p.T2423fs

Associated Papers

Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.

Aertgeerts M et al.

Hemasphere, 2025

39944233 (PubMed )
Supplement: HEM3-9-e70085-s003.xlsx › XJ175

Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma.

Martínez de Lapiscina I et al.

International Journal of Molecular Sciences, 2024

Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.

Ha C et al.

Genes, 2021

34573290 (PubMed )
Supplement: genes-12-01308-s001.zip › Table_S1.xlsx › NF1_Variants

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

Eschbacher KL et al.

The American Journal of Surgical Pathology, 2021

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

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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."