Varaico: Literature-Extracted Genetic Variants

Gene:FBXO11
Variant:p.Y913*
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FBXO11

NM_001190274.2:p.Y913*

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 variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.

Jansen S et al.

European Journal of Human Genetics : Ejhg, 2019

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Gregor A et al.

American Journal of Human Genetics, 2018

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

Fritzen D et al.

Human Genetics, 2018

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

Martínez F et al.

Journal of Medical Genetics, 2017

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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."