Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.A499_V500Splc
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DDX3X

NM_001356.5:p.A499_V500Splc

Associated Papers

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Wilson YA et al.

Journal of Child Neurology, 2024

39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4

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

Prospective and detailed behavioral phenotyping in DDX3X syndrome.

Tang L et al.

Molecular Autism, 2021

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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."