PMM2 and neurofibromatosis type 1: Additionally, AlphaFold3 has been used to evaluate the impact of missense substitutions or mutations across diverse biomedical contexts, including the EFNB1 gene in craniofrontonasal syndrome [30], Phosphomannomutase-2 in congenital disorders of glycosylation [31], and the NF1 gene in neurofibromatosis type 1 [32].