Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL2
Variant:p.E163_A164insFs
Back to variants list

CARMIL2

NM_001013838.3:p.E163_A164insFs

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

Successful Allogeneic Hematopoietic Stem Cell Transplant for CARMIL2 Deficiency.

Rastogi N et al.

Journal of Pediatric Hematology/oncology, 2021

A human immunodeficiency syndrome caused by mutations in CARMIL2.

Schober T et al.

Nature Communications, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."