Skip to main content
Fig. 2 | BMC Neurology

Fig. 2

From: A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

Fig. 2

Graphic view of Rab-39B with its functional domains and published pathogenic variants. Functional motifs of Rab-39B (213 amino acids) are differently colored. Pathogenic variants associated with ID and autism (top) or parkinsonism (bottom) are color grouped according to their functional effect. The variant presented here is boxed

Back to article page