Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL2
Variant:p.D260fs
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CARMIL2

NM_001013838.3:p.D260fs

Associated Papers

CARMIL2 Immunodeficiency with Epstein Barr Virus Associated Smooth Muscle Tumor (EBV-SMT). Report of a Case with Comprehensive Review of Literature.

Vij M et al.

Fetal and Pediatric Pathology, 2022

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

Kolukisa B et al.

Allergy, 2022

Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.

Bosa L et al.

Scientific Reports, 2021

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency.

Alazami AM et al.

Frontiers in Immunology, 2018

A human immunodeficiency syndrome caused by mutations in CARMIL2.

Schober T et al.

Nature Communications, 2017

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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."