Varaico: Literature-Extracted Genetic Variants

Gene:FBXL3
Variant:p.L295delFs
Back to variants list

FBXL3

NM_012158.4:p.L295delFs

Associated Papers

The genetic cause of neurodevelopmental disorders in 30 consanguineous families.

Paracha SA et al.

Frontiers in Medicine, 2024

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Simonetti G et al.

Leukemia, 2021

34193978 (PubMed )
Supplement: 41375_2021_1318_MOESM7_ESM.xlsx › S12-Variants

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.

Ansar M et al.

Human Molecular Genetics, 2019

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S10_CC-1_coding_Indels

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.

Behjati S et al.

Nature Communications, 2017

28643781 (PubMed )
Supplement: ncomms15936-s3.xlsx › Table_S2
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."