By KB In News, ResearchPosted 24. November 2022First pathogenic mosaic variant in STAG2 identified: New insights into an associated rare disorder READ MORE
By KB In Gene of the MonthPosted 1. November 2022Gene of the Month – October: ATP5F1BA heterozygous variant in ATP5F1B has been identified as causing a mitochondrial disease with failure to thrive despite excessive caloric intake. The results of a study published in The New [...] READ MORE
