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
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
Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.
Bick D et al.
Journal of Pediatric Genetics, 2017
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