Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.R488fs
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DDX3X

NM_001356.5:p.R488fs

Associated Papers

Deficiency of DDX3X results in neurogenesis defects and abnormal behaviors via dysfunction of the Notch signaling.

Duan W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

39471229 (PubMed )
Supplement: pnas.2404173121.sd01.xlsx › DDX3X_DNV

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

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

Lennox AL et al.

Neuron, 2020

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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."