Mutation update for the ACTN2 gene
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DOI: 10.1002/humu.24470
Abstract: ACTN2 encodes alpha‐actinin‐2, a protein expressed in human cardiac and skeletal muscle. The protein, located in the sarcomere Z‐disk, functions as a link between the anti‐parallel actin filaments. This important structural protein also binds N‐terminal… read more here.
Keywords: mutation update; previously reported; update actn2; actn2 gene ... See more keywords