Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL2
Variant:p.S230delFs
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CARMIL2

NM_001013838.3:p.S230delFs

Associated Papers

Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.

Barmettler S et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2022

Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.

Kolukisa B et al.

Allergy, 2022

CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease.

Magg T et al.

Inflammatory Bowel Diseases, 2019

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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."