Associated Papers
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
40421383 (PubMed )
Supplement: Table1.xlsx › Table_S3
Clinical features and lymphocyte immunophenotyping analysis in primary immunodeficiency patients with non-transplant lymphoproliferative disorders.
Lee WI et al.
Clinical Immunology (orlando, Fla.), 2024
Novel TTC37 mutations in a patient with Trichohepatoenteric syndrome: a case report and literature review.
Gao J et al.
Translational Pediatrics, 2022
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Bourgeois P et al.
Human Mutation, 2018
The RNA exosome and RNA exosome-linked disease.
Morton DJ et al.
Rna (new York, N.y.), 2018
29093021 (PubMed )
Supplement: supp_064626.117_Supplemental_Tables_S1-S2.docx
Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.
Lee WI et al.
Medicine, 2016
Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.
Chong JH et al.
European Journal of Pediatrics, 2015
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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