Varaico: Literature-Extracted Genetic Variants

Gene:FBXW7
Variant:p.G423R
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FBXW7

NM_001349798.2:p.G423R

Associated Papers

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain.

Muhammad A et al.

Epilepsia Open, 2026

Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome.

Saito Y et al.

Journal of Human Genetics, 2025

Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor.

Meier-Abt F et al.

American Journal of Medical Genetics. Part A, 2024

Diagnostic value of genetic mutation analysis and mutation profiling of cell-free DNA in intraocular fluid for vitreoretinal lymphoma.

Chen X et al.

Cancer Communications (london, England), 2022

35920016 (PubMed )
Supplement: CAC2-42-1217-s001.xlsx › Supplementary_Table_S6

A pilot study of the use of dynamic analysis of cell-free DNA from aqueous humor and vitreous fluid for the diagnosis and treatment monitoring of vitreoretinal lymphomas.

Wang X et al.

Haematologica, 2022

35142151 (PubMed )
Supplement: 2021_279908_WANG_TABS3.xlsx › V14

Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Peng W et al.

Nature Communications, 2022

35273153 (PubMed )
Supplement: 41467_2022_28840_MOESM7_ESM.xlsx › Sheet1

An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Lin J et al.

Frontiers in Immunology, 2022

36505399 (PubMed )
Supplement: Table_2.xlsx › vars

Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.

Shin G et al.

Genome Medicine, 2021

34488871 (PubMed )
Supplement: 13073_2021_958_MOESM2_ESM.xlsx › Table_S15_Variant_annotation

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Akolkar D et al.

Plos One, 2021

33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1

CDKN2B downregulation and other genetic characteristics in T-acute lymphoblastic leukemia.

Jang W et al.

Experimental & Molecular Medicine, 2019

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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."