A novel variant in the SPTB gene underlying hereditary spherocytosis and a literature review of previous variants
Article in BMC Medical Genomics (August 2024)
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A novel de novo synonymous variant in GREB1L impacts the mRNA splicing associated with aplasia of the urogenital system
Article in American Journal of Medical Genetics Part A (August 2024)
Combination of Synonymous and Missense Mutations in JAK3 Gene Contributes to Severe Combined Immunodeficiency in One Child
Article in Human Mutation (September 2023)