Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.T2284fs
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NF1

NM_001042492.3:p.T2284fs

Associated Papers

Integrated Whole-Exome and Transcriptome Sequencing Indicated Dysregulation of Cholesterol Metabolism in Eyelid Sebaceous Gland Carcinoma.

Wang Y et al.

Translational Vision Science & Technology, 2023

36735267 (PubMed )
Supplement: tvst-12-2-4_s001.xls › S2-Indels

Usefulness of Circulating Tumor DNA in Identifying Somatic Mutations and Tracking Tumor Evolution in Patients With Non-small Cell Lung Cancer.

Roosan MR et al.

Chest, 2021

33878340 (PubMed )
Supplement: mmc1.pdf

Breast cancer in women with neurofibromatosis type 1 (NF1): a comprehensive case series with molecular insights into its aggressive phenotype.

Yap YS et al.

Breast Cancer Research and Treatment, 2018

Targeted next-generation sequencing for TP53, RAS, BRAF, ALK and NF1 mutations in anaplastic thyroid cancer.

Latteyer S et al.

Endocrine, 2016

MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism.

Bandopadhayay P et al.

Nature Genetics, 2016

26829751 (PubMed )
Supplement: NIHMS750014-supplement-3.xlsx › Study_Cohort_for_paper
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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."