Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL2
Variant:p.S370*
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CARMIL2

NM_001013838.3:p.S370*

Associated Papers

Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers.

Marangi G et al.

Acta Dermato-venereologica, 2020

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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."