Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.A497V
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DDX3X

NM_001356.5:p.A497V

Associated Papers

Specific catalytically impaired DDX3X mutants form sexually dimorphic hollow condensates.

Owens MC et al.

Nature Communications, 2024

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.

Radford EJ et al.

Nature Communications, 2023

38057330 (PubMed )
Supplement: 41467_2023_43041_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_S21_LENNOX_composite_phenotypic_score.xlsx › Supplementary_Data_S17_LENNOX_c

Mutant forms of DDX3X with diminished catalysis form hollow condensates that exhibit sex-specific regulation.

Owens MC et al.

Biorxiv : the Preprint Server for Biology, 2023

The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.

Gadek M et al.

Trends in Molecular Medicine, 2023

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.

Lennox AL et al.

Neuron, 2020

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.

Mak CC et al.

Npj Genomic Medicine, 2018

30109123 (PubMed )
Supplement: 41525_2018_56_MOESM1_ESM.pdf
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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."