Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1.

Alison M R CastleSmrithi SalianHaim BassanEfrat Sofrin-DruckerRaffaella CusmaiKristin C HermanDelphine HeronBoris KerenDevon L JohnstoneWendy MearsSusanne MorlotThi Tuyet Mai NguyenRachel RockElliot StolermanJulia RussoWilliam Boyce BurnsJulie R JonesValentina SerpieriHannah WallaschekGinevra ZanniDavid A DymentPhilippe M Campeau

Published in: Neurology. Genetics (2021)

Clinical features of the cases reported broaden the spectrum of the known phenotype of GPAA1-related GPI deficiency, while outlining the importance of using functional studies such as flow cytometry to aid in variant classification.

Keyphrases

flow cytometry
machine learning
replacement therapy
deep learning
copy number
case control