Author

P. Kedar

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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