Article

Whole exome sequencing reveals a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia

2020-05-08

Abstract excerpt

<h4>ABSTRACT</h4> Biliary atresia (BA) is the most common obstructive cholangiopathy in neonates, often progressing to end-stage cirrhosis. BA pathogenesis is believed to be multifactorial, but the genetic contribution remains poorly defined. We conducted exome sequencing on 89 nonsyndromic BA trios. In 31.5% of the patients, rare and deleterious de novo , homozygous recessive and/or compound heterozygous variants...

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Literature Corpus work: 69f709f2-6cab-55ee-afef-802f17c27e86
DOI: 10.1101/2020.05.05.20091504

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