Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1C
Variant:p.G135E
Back to variants list

DCLRE1C

NM_001033855.3:p.G135E

Associated Papers

Immune Dysregulation in Monogenic Inborn Errors of Immunity in Oman: Over A Decade of Experience From a Single Tertiary Center.

Al Farsi T et al.

Frontiers in Immunology, 2022

DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile.

Al-Herz W et al.

Clinical Immunology (orlando, Fla.), 2018

Autoinhibition of the Nuclease ARTEMIS Is Mediated by a Physical Interaction between Its Catalytic and C-terminal Domains.

Niewolik D et al.

The Journal of Biological Chemistry, 2017

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.

Felgentreff K et al.

The Journal of Allergy and Clinical Immunology, 2015

The spatial organization of non-homologous end joining: from bridging to end joining.

Ochi T et al.

Dna Repair, 2014

The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.

Lee PP et al.

Clinical Immunology (orlando, Fla.), 2013

The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.

Pannicke U et al.

Human Mutation, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."