Article

A Point Mutation in the RNA Recognition Motif of <i>CSTF2</i> Associated with Intellectual Disability in Humans Causes Defects in 3′ End Processing

2020-01-02

Abstract excerpt

<h4>SUMMARY</h4> CSTF2 encodes an RNA-binding protein that is essential for mRNA cleavage and polyadenylation (C/P). No disease-associated mutations have been described for this gene. Here, we report a mutation in the RNA recognition motif (RRM) of CSTF2 that changes an aspartic acid at position 50 to alanine (p.D50A), resulting in intellectual disability in male patients. In mice, this mutation was sufficient t...

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Literature Corpus work: b5748e71-e3f9-5821-b0ef-a8b12db1f542
DOI: 10.1101/2020.01.02.893107

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A Point Mutation in the RNA Recognition Motif of <i>CSTF2</i> Associated with Intellectual Disability in Humans Causes Defects in 3′ End ProcessingDOI 10.1101/2020.01.02.893107Read

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