Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies

Di Donato, Nataliya, Thom, Andrew, Rump, Andreas, Greve, Johannes N., Cadiñanos, Juan, Calabro, Salvatore, Cathey, Sara, Chung, Brian, Cope, Heidi, Costales, Maria, Cuvertino, Sara, Dinkel, Philine, Erripi, Kalliopi, Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Garavelli, Livia, Hoffjan, Sabine, Janzarik, Wibke G., Kreimer, Insa, Mancini, Grazia, Marin-Reina, Purificacion, Meinhardt, Andrea, Niehaus, Indra, Pilz, Daniela, Ricca, Ivana, Simarro, Fernando Santos, Schrock, Evelin, Marquardt, Anja, Taft, Manuel H., Tezcan, Kamer, Thunström, Sofia, Verhagen, Judith, Verloes, Alain, Wollnik, Bernd, Krawitz, Peter, Hsieh, Tzung-Chien, Seifert, Michael, Heide, Michael, Lawrence, Catherine B., Roberts, Neil A., Manstein, Dietmar J., Woolf, Adrian S. and Banka, Siddharth 2026. Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies. American Journal of Human Genetics 10.1016/j.ajhg.2025.12.007

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Item Type:	Article
Date Type:	Published Online
Status:	In Press
Schools:	Schools > Medicine
Publisher:	Cell Press
ISSN:	0002-9297
Date of First Compliant Deposit:	19 January 2026
Date of Acceptance:	8 December 2025
Last Modified:	19 Jan 2026 14:15
URI:	https://orca.cardiff.ac.uk/id/eprint/184017

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