Varaico: Literature-Extracted Genetic Variants

Gene:CSTF2
Variant:p.D50A
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CSTF2

NM_001325.3:p.D50A

Associated Papers

Human CSTF2 RNA Recognition Motif Domain Binds to a U-Rich RNA Sequence through a Multistep Binding Process.

Masoumzadeh E et al.

Biochemistry, 2024

Electrostatic Interactions between CSTF2 and pre-mRNA Drive Cleavage and Polyadenylation.

Masoumzadeh E et al.

Biophysical Journal, 2022

A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans.

Grozdanov PN et al.

Nucleic Acids Research, 2020

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Hu H et al.

Molecular Psychiatry, 2016

25644381 (PubMed )
Supplement: mp2014193x1.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."