Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.R480T
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DDX3X

NM_001356.5:p.R480T

Associated Papers

DEAD/DEAH-box RNA helicases shape the risk of neurodevelopmental disorders.

Fiorenzani C et al.

Trends in Genetics : Tig, 2025

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

Cerebral Visual Impairment Characterized by Abnormal Visual Orienting Behavior With Preserved Visual Cortical Activation.

Kelly JP et al.

Investigative Ophthalmology & Visual Science, 2021

33984120 (PubMed )
Supplement: iovs-62-6-15_s003.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."