Nishino M, Tanaka M, Imagawa K, Yaita K, et al. Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy. Am J Med Genet A 2024 Feb 26. doi: 10.1002/ajmg.a.63575.
PMID: 38407561