Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome.

Linda GailiteDmitrijs RotsIeva PukiteGunta CernevskaMadara Kreile

Published in: BMC pediatrics (2018)

The presented case highlights the challenges encountered with the interpretation of molecular data upon identification of multiple variants in one gene that are causing different degree reducing effect on enzyme activity leading to several clinical conditions.

Keyphrases

case report
copy number
genome wide
genome wide identification
dna methylation
big data
machine learning
transcription factor
gene expression
single molecule
genome wide analysis
deep learning