Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.Y525C
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DDX3X

NM_001356.5:p.Y525C

Associated Papers

Phenotype and genotype in hereditary chronic intestinal pseudo-obstruction with small intestine involvement.

Chen Y et al.

Frontiers in Medicine, 2025

Circulating Tumor DNA Reflects Histologic and Clinical Characteristics of Various Lymphoma Subtypes.

Kim JJ et al.

Cancer Research and Treatment, 2024

37475138 (PubMed )
Supplement: crt-2023-667-Supplementary-Table-S2.pdf

Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.

Sosinsky A et al.

Nature Medicine, 2024

38200255 (PubMed )
Supplement: 41591_2023_2682_MOESM3_ESM.xlsx › Table_S1

Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability.

Rafat K et al.

Molecular Syndromology, 2023

AEP-cleaved DDX3X induces alternative RNA splicing events to mediate cancer cell adaptation in harsh microenvironments.

Zhang W et al.

The Journal of Clinical Investigation, 2023

37988165 (PubMed )
Supplement: jci-134-173299-s132.xlsx › table_S11.Primers_and_shRNAs

Genetic and immunohistochemical profiling of NK/T-cell lymphomas reveals prognostically relevant BCOR-MYC association.

Oishi N et al.

Blood Advances, 2023

35882439 (PubMed )
Supplement: BLOODA_ADV-2022-007541-mmc2.xlsx › Sheet1

Clonally unrelated Richter syndrome are truly de novo diffuse large B-cell lymphomas with a mutational profile reminiscent of clonally related Richter syndrome.

Favini C et al.

British Journal of Haematology, 2022

35829664 (PubMed )
Supplement: BJH-198-1016-s001.xlsx › Table_S4

Severe gastrointestinal symptoms caused by a novel DDX3X variant.

Okano S et al.

European Journal of Medical Genetics, 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."