Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.R488delFs
Back to variants list

DDX3X

NM_001356.5:p.R488delFs

Associated Papers

Deficiency of DDX3X results in neurogenesis defects and abnormal behaviors via dysfunction of the Notch signaling.

Duan W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

39471229 (PubMed )
Supplement: pnas.2404173121.sd01.xlsx › DDX3X_DNV

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.

Mak CC et al.

Npj Genomic Medicine, 2018

30109123 (PubMed )
Supplement: 41525_2018_56_MOESM1_ESM.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."