Associated Papers
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Dynamic states of eIF6 and SDS variants modulate interactions with uL14 of the 60S ribosomal subunit.
Elliff J et al.
Nucleic Acids Research, 2023
Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman-Diamond Syndrome?
Koh AL et al.
American Journal of Medical Genetics. Part A, 2022
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.
Taha I et al.
Frontiers in Genetics, 2022
Somatic genetic rescue of a germline ribosome assembly defect.
Tan S et al.
Nature Communications, 2021
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?
Koh AL et al.
American Journal of Medical Genetics. Part A, 2020
Select a paper to view details