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ALFALAH , Abdullah

Last name: ALFALAH

First name: Abdullah

2023 (v1)

Publication

Metadata-only

Novel biallelic variants expand the phenotype of NAA20-related syndrome

D'Onofrio, Gianluca Cuccurullo, Claudia Larsen, Silje Kathrine

NAA20 is the catalytic subunit of the NatB complex, which is responsible for N-terminal acetylation of approximately 20% of the human proteome. Recently, pathogenic biallelic variants in NAA20 were associated with a novel neurodevelopmental disorder in five individuals with limited clinical information. We report two sisters harboring compound...

Uploaded on: September 17, 2024