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Article

Whole-exome sequencing for genetic diagnosis of idiopathic liver injury in children.

Journal of cellular and molecular medicine - 1 Jun 2024

Lülecioğlu Aysima Atılgan, Yazıcı Yılmaz Yücehan, Baran Alperen, Warasnhe Khaled, Beyaz Şengül, Aytekin Caner, Özçay Figen, Aydemir Yusuf, Barış Zeren, Belkaya Serkan

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

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Share to Liver Diseases

Share to Liver Failure, Acute

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Source

Open in PubMed Open full text

Identifiers

PMID: 38864694
DOI: 10.1111/jcmm.18485
PMCID: PMC11167704

Genes

ABCB4
ACOX2
CDAN1
JAG1
PCK2
PYGL
SLC27A5
VPS33B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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