Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.T498I
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DDX3X

NM_001356.5:p.T498I

Associated Papers

Specific catalytically impaired DDX3X mutants form sexually dimorphic hollow condensates.

Owens MC et al.

Nature Communications, 2024

39500865 (PubMed )
Supplement: 41467_2024_53636_MOESM8_ESM.zip › Owens__Shen_et_al._Source_Data › Owens__Shen_et_al._Source_Data_Tables.xlsx › Figure_7

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

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
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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."