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. 2020 Nov 25;107(6):1178–1185. doi: 10.1016/j.ajhg.2020.11.007

Figure 2.

Figure 2

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.