By KB In News, ResearchPosted 9. April 2025Identified heterozygous truncating SEC24C variants affect protein transport and glycosylation and cause previously undescribed syndrome with epilepsy, cataracts and anemia READ MORE
By KB In Gene of the MonthPosted 1. April 2025Gene of the Month – March – MED16Researchers have uncovered a novel neurodevelopmental disorder featuring multiple congenital anomalies that is linked to variants in the MED16 gene. Published in the American Journal of Human [...] READ MORE
