Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1C
Variant:p.L69_L70del1
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DCLRE1C

NM_001033855.3:p.L69_L70del1

Associated Papers

Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case.

Musabak U et al.

Case Reports in Immunology, 2025

A Clinical Conundrum with Diagnostic and Therapeutic Challenge: a Tale of Two Disorders in One Case.

Gaikwad P et al.

Journal of Clinical Immunology, 2023

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

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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."