Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL2
Variant:p.P154delFs
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CARMIL2

NM_001013838.3:p.P154delFs

Associated Papers

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

36727012 (PubMed )
Supplement: Datasheet3.pdf

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

Bosa L et al.

Scientific Reports, 2021

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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."