Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.A541V
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DDX3X

NM_001356.5:p.A541V

Associated Papers

Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach.

Park KS et al.

Annals of Laboratory Medicine, 2026

40958716 (PubMed )
Supplement: alm-46-1-94-supple1.xlsx › Table_S6

Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing.

Shin S et al.

Pediatric Neurology, 2023

TP53 mutations identify high-risk events for peripheral T-cell lymphoma treated with CHOP-based chemotherapy.

Johnson WT et al.

Blood Advances, 2023

37078708 (PubMed )
Supplement: BLOODA_ADV-2023-009953-mmc1.xlsx › S1B_PTCL-NOS_mutations_

Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.

Shi Y et al.

Ebiomedicine, 2020

32304999 (PubMed )
Supplement: mmc1.xlsx › 4.mutations

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Dufva O et al.

Nature Communications, 2018

29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L09

Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma.

Jiang L et al.

Nature Genetics, 2015

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