Varaico: Literature-Extracted Genetic Variants

Gene:DDX11
Variant:p.Q757_A758Splc
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DDX11

NM_030653.4:p.Q757_A758Splc

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

Warsaw breakage syndrome: Further clinical and genetic delineation.

Alkhunaizi E et al.

American Journal of Medical Genetics. Part A, 2018

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

Komor AC et al.

Nature, 2016

27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf

The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development.

Sun X et al.

Human Molecular Genetics, 2015

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

Bailey C et al.

European Journal of Medical Genetics, 2015

DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity.

Stoepker C et al.

Dna Repair, 2015

Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.

Capo-Chichi JM et al.

Human Mutation, 2013

Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1.

van der Lelij P et al.

American Journal of Human Genetics, 2010

Disease-causing missense mutations in human DNA helicase disorders.

Suhasini AN et al.

Mutation Research, 0

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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."