ALPK3 heterozygous truncating variants cause late-onset hypertrophic cardiomyopathy with frequent apical involvement and apical aneurysm
ALPK3杂合截断变异体导致迟发性肥厚型心肌病,常伴有心尖受累和心尖动脉瘤。
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doi:10.1101/2024.11.14.24317359
Busse, Leora; Huth, Emily A; Abraham, Maria Roselle; Abraham, Theodore; Padmanabhan, Arun; Wojciak, Julianne; Wright, Gabrielle; Aatre, Rajani; Campagna, Rachel; Jackson, Erika; Kreykes, Sarah; Lane, Kimberly; Sawyer, Lindsey; Stevens, Chelsea; Thomas, Matthew; VanDyke, Rebecca; Vedantham, Vasanth; Higgs, Emily J