Article

Systems genetics analysis identify calcium signalling defects as novel cause of congenital heart disease

2019-12-12

Abstract excerpt

<h4>Background</h4> Congenital heart disease (CHD) occurs in almost 1% of newborn children and is considered a multifactorial disorder. CHD may segregate in families due to significant contribution of genetic factors in the disease aetiology. The aim of the study was to identify pathophysiological mechanisms in families segregating CHD. <h4>Methods</h4> We used whole exome sequencing to identify rare genetic var...

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Literature Corpus work: a12085c7-bf43-5db4-a5c2-a583e4e24023
DOI: 10.1101/2019.12.11.872424

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