Varaico: Literature-Extracted Genetic Variants

Gene:DDX11
Variant:p.R213Splc
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DDX11

NM_030653.4:p.R213Splc

Associated Papers

[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

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

Bottega R et al.

Molecular Genetics & Genomic Medicine, 2019

Warsaw breakage syndrome: Further clinical and genetic delineation.

Alkhunaizi E et al.

American Journal of Medical Genetics. Part A, 2018

Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings.

Bailey C et al.

European Journal of Medical Genetics, 2015

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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."