Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.A483T
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DDX3X

NM_001356.5:p.A483T

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

Clinical and mutational profiles of adult medulloblastoma groups.

Wong GC et al.

Acta Neuropathologica Communications, 2020

33172502 (PubMed )
Supplement: 40478_2020_1066_MOESM2_ESM.xlsx › S4_Targeted_sequencing_mutation
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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."