Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL2
Variant:p.G357_G358Splc
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CARMIL2

NM_001013838.3:p.G357_G358Splc

Associated Papers

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

Kolukisa B et al.

Allergy, 2022

Case report: Primary immunodeficiency due to a novel mutation in CARMIL2 and its response to combined immunomodulatory therapy.

Zhu Y et al.

Frontiers in Pediatrics, 2022

Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations.

Maccari ME et al.

Clinical Immunology (orlando, Fla.), 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."