Varaico: Literature-Extracted Genetic Variants

Gene:CORO1A
Variant:p.S401fs
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CORO1A

NM_007074.4:p.S401fs

Associated Papers

Primary immunodeficiencies caused by mutations in actin regulatory proteins.

Janssen E et al.

Immunological Reviews, 2019

Defective thymic output in WAS patients is associated with abnormal actin organization.

Li W et al.

Scientific Reports, 2017

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association.

Yee CS et al.

The Journal of Allergy and Clinical Immunology, 2016

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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."