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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CARMIL2

Variant:p.G357_G358Splc

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CARMIL2

NM_001013838.3:p.G357_G358Splc

hg38:chr16:67647960 T>A

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

36515678 (PubMed )

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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."