Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL2
Variant:p.R830Q
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CARMIL2

NM_001317026.3:p.R830Q

Associated Papers

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.

Lévy R et al.

The Journal of Experimental Medicine, 2023

Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.

Verduin M et al.

Neuro-oncology Advances, 0

38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_5.xlsx › SNVs
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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."