Varaico: Literature-Extracted Genetic Variants

Gene:DDX11
Variant:p.R558*
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DDX11

NM_030653.4:p.R558*

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

Evidence of an unprecedented cytoplasmic function of DDX11, the Warsaw breakage syndrome DNA helicase, in regulating autophagy.

Bonavita R et al.

Autophagy, 2025

Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.

Koç Yekedüz M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

40542290 (PubMed )
Supplement: 10072_2025_8286_MOESM1_ESM.xlsx › T_M_HASTALAR

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

The molecular landscape of ETMR at diagnosis and relapse.

Lambo S et al.

Nature, 2019

31802000 (PubMed )
Supplement: NIHMS1541318-supplement-Supplementary_Table_6.xlsx › SNVs_Exome_Sequencing

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s11.xlsx › supplementary_data_10
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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."