Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1C
Variant:p.Q7*
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DCLRE1C

NM_001033855.3:p.Q7*

Associated Papers

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

Pannicke U et al.

Human Mutation, 2010

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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."