American journal of human genetics
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.
Nataliya Di Donato, NMA Consortium, Andrew Thom, Andreas Rump, Johannes N Greve, Juan Cadiñanos, Rocco Salvatore Calabrò, Sara Cathey, Brian Chung, Heidi Cope, Maria Costales, Sara Cuvertino, Philine Dinkel, Kalliopi Erripi, Andrew E Fry
Published: 202610.1016/j.ajhg.2025.12.007
Abstract
Recent advances in Mendelian genomics reveal the importance of variant-level characterization of allelic disorders. Non-muscle actin isoforms, encoded by the genes ACTB and ACTG1, are the most abundant intracellular proteins, but historically, they a…
Preview only. Read the full abstract at the source