Michele Proietti

Genotype–phenotype analysis in 333 individuals with heterozygous variants in NFKB1

Heterozygous germline variants in NFKB1 can be classified into variants with “known protein defect” and “unknown protein effect.” However, beyond this, NFKB1 variants may be additionally categorized into at least eight distinct variant classes. We conducted a literature review of...