A Neurodevelopmental Phenotype Is Linked to SMG8
(A) Genomewide linkage analysis of the four study families combined shows a single linkage peak with LOD score > 6.
(B) Cartoon of SMG8 with the four variants shown.
(C) Sanger tracing of the four SMG8 variants.
(D) Multispecies alignment showing the strong conservation of His208.