Varaico: Literature-Extracted Genetic Variants

Gene:FBXO11
Variant:p.Y692N
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FBXO11

NM_001190274.2:p.Y692N

Associated Papers

De novo missense variants in FBXO11 alter its protein expression and subcellular localization.

Gregor A et al.

Human Molecular Genetics, 2022

34505148 (PubMed )
Supplement: table_s3_050721_ddab265.xlsx › Sheet1

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.

Fritzen D et al.

Human Genetics, 2018

Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.

Liu Z et al.

Frontiers in Genetics, 2018

30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Reijnders MRF et al.

Nature Communications, 2017

29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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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."