Open access
Aug 2026
Expanding the genetic landscape of SLC4A1-linked hereditary spherocytosis: discovery of a novel TM9 variant using high-resolution genomic profiling analysis
Findings expand the mutational spectrum of SLC4A1-related HS in Indian patients with mild to moderate HS characterized by anemia, jaundice, splenomegaly, reticulocytosis, and reduced EMA fluorescence.
T. More, P. Kedar
· Frontiers in Genetics · 0 citations