Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization.

Elisabetta TabolacciClelia MolinarioGiuseppe MarangiVeronica NobileVincenzo ArenaMarisa I MendesDesiree E C SmithGajja S SalomonsMilena TanaSimonetta CostaGiovanni VentoMaurizio Genuardi

Published in: Clinical genetics (2020)

Keyphrases

liver failure
genome wide
hepatitis b virus
copy number
case report
dna methylation
genome wide identification
gene expression