Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1C
Variant:p.M1T
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DCLRE1C

NM_001033855.3:p.M1T

Associated Papers

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

Tirosh I et al.

The Journal of Allergy and Clinical Immunology, 2019

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

Al-Herz W et al.

Clinical Immunology (orlando, Fla.), 2018

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 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

Omenn syndrome does not live by V(D)J recombination alone.

Marrella V et al.

Current Opinion in Allergy and Clinical Immunology, 2011

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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."