Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.H472R
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DDX3X

NM_001356.5:p.H472R

Associated Papers

Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome.

Palova H et al.

Npj Precision Oncology, 2024

Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.

Parra A et al.

Clinical Genetics, 2024

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.

Álvarez-Mora MI et al.

Orphanet Journal of Rare Diseases, 2022

Should cell-free DNA testing be used in pregnancy with increased fetal nuchal translucency?

Miranda J et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 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."