U4atac Minor Spliceosomal RNA - Disease

Disease

It has been shown that mutations in the U4atac snRNA can cause microcephalic osteodysplastic primordial dwarfism type I (MOPD I), also called Taybi-Linder syndrome (TALS). MOPD I is a developmental disorder that is associated with brain and skeletal abnormalities. It has been shown that the mutations cause defective U12 splicing.

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