Whole‐exome sequencing for genetic diagnosis of idiopathic liver injury in children
Aysima Atılgan Lülecioğlu,
Yılmaz Yücehan Yazıcı,
Alperen Baran
et al.
Abstract:Genome‐wide approaches, such as whole‐exome sequencing (WES), are widely used to decipher the genetic mechanisms underlying inter‐individual variability in disease susceptibility. We aimed to dissect inborn monogenic determinants of idiopathic liver injury in otherwise healthy children. We thus performed WES for 20 patients presented with paediatric‐onset recurrent elevated transaminases (rELT) or acute liver failure (ALF) of unknown aetiology. A stringent variant screening was undertaken on a manually‐curated… Show more
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