Synonymous variant activating a non-canonical cryptic splice site in X-linked agammaglobulinemia with catastrophic CNS demyelination. Grombirikova H, Kramarek M, Liba Z, Soucek P, Bily V, Turnovec M, Freiberger T, Bloomfield M J Med Genet. 2026 Nov 11. PMID: 43015064. Abstract CommentRecommendBookmarkWatch
