Varaico: Literature-Extracted Genetic Variants

Gene:DDX11
Variant:p.S469fs
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DDX11

NM_030653.4:p.S469fs

Associated Papers

Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.

Hu J et al.

Biomedicines, 2026

41595643 (PubMed )
Supplement: biomedicines-14-00107-s001.zip › Supplementary_File_S1.xlsx › Data_Extraction

Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the DDX11 Gene Associated With Growth Restriction, Cerebral, and Extra-Cerebral Malformations.

Kratochwila C et al.

Prenatal Diagnosis, 2024

[Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness].

Arroyo-Carrera I et al.

Revista De Neurologia, 2023

Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.

van Schie JJM et al.

Nature Communications, 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."