Varaico: Literature-Extracted Genetic Variants

Gene:CPSF3
Variant:p.L427S
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CPSF3

NM_016207.4:p.L427S

Associated Papers

A Defective mRNA Cleavage and Polyadenylation Complex Facilitates Expansions of Transcribed (GAA)n Repeats Associated with Friedreich's Ataxia.

McGinty RJ et al.

Cell Reports, 2017

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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."