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Mutation update for the ACTN2 gene.
Hum Mutat. 2022 Dec;43(12):1745-1756. doi: 10.1002/humu.24470. Epub 2022 Sep 27.
Hum Mutat. 2022.
PMID: 36116040
Free PMC article.
Review.
Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
Ranta-Aho J, Felice KJ, Jonson PH, Sarparanta J, Palmio J, Tasca G, Sabatelli M, Yvorel C, Harzallah I, Touraine R, Pais L, Austin-Tse CA, Ganesh V, O'Leary MC, Rehm HL, Hehir MK, Subramony S, Wu Q, Udd B, Savarese M.
Ranta-Aho J, et al.
medRxiv [Preprint]. 2024 Jan 17:2024.01.17.23298671. doi: 10.1101/2024.01.17.23298671.
medRxiv. 2024.
PMID: 38293186
Free PMC article.
Preprint.
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