AlphaFold prediction of BORC showing the pathogenic mutations in the BLOC1S1 subunit in children with a neurodevelopmental disorder
New from @depaceraffa.bsky.social from our lab #NICHD #NIH with Carlos Dominguez-Gonzalez, Adeline Vanderver @childrensphila.bsky.social et al.: pathogenic BLOC1S1 variants disrupt BLOC-1/BORC complexes in children with severe neurodevelopmental disorder authors.elsevier.com/c/1mqGAgeXHm-E