HIGHLIGHTS
- who: Manfred Fliegauf from the France The Rockefeller University have published the paper: Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50, in the Journal: (JOURNAL)
- what: The authors assessed 47 distinct N-terminal p50 missense alterations, including 39 variants from the Tuijnenburg and Lorenzini cohorts, four variants described elsewhere and four previously uncharacterized variants. Since 36 of the 47 NFKB1 variants tested in this study localize to the Rel-homology frontiersin.org 10.3389/fimmu.2022.965326 A B Deleterious missense variants causing protein loss are characterized by weak p105 expression . . .
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