The Scottish Genomes Partnership

Project: Research

Status	Active
Effective start/end date	1/02/16 → 29/02/20

Total award	£4,000,000.00
Funding organisation	UK central government bodies/local authorities, health and hospital authorities
Funder project reference	SGP/1

Period	1/02/16 → 29/02/20

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation