Varaico: Literature-Extracted Genetic Variants

Gene:CORO1A
Variant:p.R12L
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CORO1A

NM_007074.4:p.R12L

Associated Papers

Novel hemizygous CORO1A variant leads to combined immunodeficiency with defective platelet calcium signaling and cell mobility.

Khoreva A et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

Coronin-1A: immune deficiency in humans and mice.

Punwani D et al.

Journal of Clinical Immunology, 2015

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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."