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Synonymous BTK variant activating a non-canonical cryptic splice site in X-linked agammaglobulinemia with catastrophic CNS demyelination.

Created on 12 Nov 2026

Authors

Hana Grombirikova, Michal Kramarek, Zuzana Liba, Premysl Soucek, Viktor Bily, Marek Turnovec, Tomas Freiberger, Marketa Bloomfield

Published in

Journal of medical genetics. Nov 11, 2026. Epub Nov 11, 2026.

PMID:
43015064
Bibliographic data and abstract were imported from PubMed on 12 Nov 2026.

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