Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.
Di Donato N; NMA Consortium; Thom A, Rump A, Greve JN, Cadiñanos J, Calabrò RS, Cathey S, Chung B, Cope H, Costales M, Cuvertino S, Dinkel P, Erripi K, Fry AE, Garavelli L, Hoffjan S, Janzarik WG, Kreimer I, Mancini G, Marin-Reina P, Meinhardt A, Niehaus I, Pilz D, Ricca I, Simarro FS, Schrock E, Marquardt A, Taft MH, Tezcan K, Thunström S, Verhagen J, Verloes A, Wollnik B, Krawitz P, Hsieh TC, Seifert M, Heide M, Lawrence CB, Roberts NA, Manstein DJ, Woolf AS, Banka S.
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Am J Hum Genet. 2026 Feb 5;113(2):324-341. doi: 10.1016/j.ajhg.2025.12.007. Epub 2026 Jan 12.
Am J Hum Genet. 2026.
PMID: 41529692
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