Associated Papers
Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2.
Zhang Q et al.
Frontiers in Genetics, 2021
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Bourgeois P et al.
Human Mutation, 2018
Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Fabre A et al.
Orphanet Journal of Rare Diseases, 2013
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
Fabre A et al.
American Journal of Human Genetics, 2012
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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