Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy.

Valeria MorbidoniEmanuele AgoliniKevin C SlepLuca PannoneDaniela ZuccarelloMatteo CassinaEnrico GrossoGiorgia GaiLeonardo SalviatiBruno DallapiccolaAntonio NovelliSimone MartinelliEva Trevisson

Published in: Journal of medical genetics (2020)

Our data are in favour of a causative role of TOGARAM1 variants in the pathogenesis of this novel disorder, connecting this gene with primary ciliopathy.

Keyphrases

copy number
genome wide
genome wide identification
electronic health record
big data
machine learning
data analysis