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The pathogenicity of genetic variants previously associated with left ventricular non‐compaction

机译:先前与左心室不紧密相关的遗传变异的致病性

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摘要

BackgroundLeft ventricular non‐compaction (LVNC) is a rare cardiomyopathy. Many genetic variants have been associated with LVNC. However, the number of the previous LVNC‐associated variants that are common in the background population remains unknown. The aim of this study was to provide an updated list of previously reported LVNC‐associated variants with biologic description and investigate the prevalence of LVNC variants in healthy general population to find false‐positive LVNC‐associated variants.
机译:背景左心室非紧致症(LVNC)是一种罕见的心肌病。 LVNC与许多遗传变异有关。但是,在背景人群中常见的先前与LVNC相关的变体的数量仍然未知。这项研究的目的是提供具有生物学描述的先前报道的LVNC相关变体的更新列表,并调查健康人群中LVNC变体的普遍性,以发现假阳性的LVNC相关变体。

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