Associated Papers
Case report: Genetic analysis of a novel intronic inversion variant in the SPTB gene associated with hereditary spherocytosis.
Xi B et al.
Frontiers in Genetics, 2023
38111681 (PubMed )
Supplement: Table1.pdf
Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.
Enogieru OJ et al.
Human Mutation, 2019
Select a paper to view details