Associated Papers
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
A yeast model for trichohepatoenteric syndrome suggests strong loss of Ski2 function in most causative mutations.
Orlando LJ et al.
Micropublication Biology, 2022
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Lassmann T et al.
Npj Genomic Medicine, 2020
Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.
Poulton C et al.
Gene, 2019
SKI complex: A multifaceted cytoplasmic RNA exosome cofactor in mRNA metabolism with links to disease, developmental processes, and antiviral responses.
Tomecki R et al.
Wiley Interdisciplinary Reviews. Rna, 0
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