Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.R531H
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DDX3X

NM_001356.5:p.R531H

Associated Papers

Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.

Candelaria M et al.

International Journal of Molecular Sciences, 2024

39273276 (PubMed )
Supplement: ijms-25-09328-s001.zip › ijms-3114367-supplementary.pdf

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_S26_cBioportal_DDX3X_vars_190_nonoverlapping_samples.xlsx › Supplementary_Data_S21_cBioport

Next-Generation Sequencing of Vitreoretinal Lymphoma by Vitreous Liquid Biopsy: Diagnostic Potential and Genotype/Phenotype Correlation.

Kwak JJ et al.

Investigative Ophthalmology & Visual Science, 2023

37975847 (PubMed )
Supplement: iovs-64-14-27_s003.pdf

Design and Testing of a Custom Melanoma Next Generation Sequencing Panel for Analysis of Circulating Tumor DNA.

Diefenbach RJ et al.

Cancers, 2020

32785074 (PubMed )
Supplement: cancers-12-02228-s001.zip › TableS5PatientMutationsIdentified.xlsx › Sheet1

Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Manca A et al.

Journal of Translational Medicine, 2019

31455347 (PubMed )
Supplement: 12967_2019_2039_MOESM1_ESM.xlsx › Validation_cohort_nsyn_variants
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