Autor: Jia Fu
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TPM1-p.E181K mutation suppresses CaMKII/HDAC4 signaling pathway leading to pediatric restrictive cardiomyopathy
BackgroundThis study aims to elucidate the pathogenicity of the TPM1 mutation (NM_001018005.2:c.541G>A, p. Glu181Lys) in restrictive cardiomyopathy (RCM), establish its ACMG pathogenicity classification, and report for the first time its association wi…