Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1C
Variant:p.T71P
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DCLRE1C

NM_001033855.3:p.T71P

Associated Papers

Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood.

Hazar E et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2024

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

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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."