Article

Genomic and biological panoramas of non-muscle actinopathies

2024-08-21

Abstract excerpt

<h4>Background</h4> Cytoskeletal non-muscle actin isoforms are the most abundant intracellular proteins and extensively interact with other molecules. Biological consequences and genotype-phenotype correlations of the variants in genes encoding these isoforms, ACTB and ACTG1, are not delineated. <h4>Methods</h4> Clinical data analysis from 290 individuals with pathogenic ACTB/ACTG1 variants; characterization of pa...

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Literature Corpus work: ae4ea672-d663-5c40-ab94-6cbae8408821
DOI: 10.1101/2024.08.21.24310320

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