Robuta

https://pubmed.ncbi.nlm.nih.gov/38015619/?dopt=Abstract Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency... AIOLOS, also known as IKZF3, is a transcription factor that is highly expressed in the lymphoid lineage and is critical for lymphocyte differentiation and... lead to immune deficiency disease associated aiolos https://researchportal.bath.ac.uk/en/publications/developing-a-ppi-inhibitor-based-therapy-for-stxbp1-haploinsuffic/ Developing a PPI inhibitor-based therapy for STXBP1 haploinsufficiency-associated epileptic... developing ppi inhibitor based therapy https://unige.iris.cineca.it/handle/11567/1083885 Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study electroclinical features haploinsufficiency related epilepsy https://experts.umn.edu/en/publications/flt-1-haploinsufficiency-ameliorates-muscular-dystrophy-phenotype/ Flt-1 haploinsufficiency ameliorates muscular dystrophy phenotype by developmentally increased... muscular dystrophy flt haploinsufficiency ameliorates phenotype