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Article

STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.

Human mutation - 1 Oct 2018

Turkgenc Burcu, Sanlidag Burcin, Eker Amber, Giray Aslı, Kutuk Ozgur, Yakicier Cengiz, Tolun Aslıhan, Temel Sehime G

Abstract excerpt

We present three siblings afflicted with a disease characterized by cerebellar ataxia, cerebellar atrophy, pyramidal tract damage with increased lower limb tendon reflexes, and onset of 31 to 57 years, which is not typical for a known disease. In a region of shared homozygosity in patients, exome sequencing revealed novel homozygous c.*240T > C variant in the 3'UTR of STUB1, the gene responsible for autosomal...

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PMID: 30058754
DOI: 10.1002/humu.23601

Genes

STUB1

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