Varaico: Literature-Extracted Genetic Variants

Gene:DDX11
Variant:p.L508R
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DDX11

NM_030653.4:p.L508R

Associated Papers

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

Arroyo-Carrera I et al.

Revista De Neurologia, 2023

Role of the DDX11 DNA Helicase in Warsaw Breakage Syndrome Etiology.

Santos D et al.

International Journal of Molecular Sciences, 2021

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

van Schie JJM et al.

Nature Communications, 2020

Spotlight on Warsaw Breakage Syndrome.

Pisani FM

The Application of Clinical Genetics, 2019

Molecular and Cellular Functions of the Warsaw Breakage Syndrome DNA Helicase DDX11.

Pisani FM et al.

Genes, 2018

Warsaw breakage syndrome: Further clinical and genetic delineation.

Alkhunaizi E et al.

American Journal of Medical Genetics. Part A, 2018

Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.

Eppley S et al.

American Journal of Medical Genetics. Part A, 2017

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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."