https://pmc.ncbi.nlm.nih.gov/articles/PMC10616384/
Novel hemizygous CORO1A variant leads to combined immunodeficiency with defective platelet calcium...
To date, fewer than 20 patients have been identified as having germline biallelic mutations in the coronin-1A gene (CORO1A) and its protein with clinical...
leads tocombined immunodeficiencynovelhemizygousvariant