bibliographicCitation |
Restrepo-Vera JL, Rovira-Moreno E, Ramón J, Codina-Sola M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, Martí R, García-Arumí E, Juntas-Morales R. Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern. J Hum Genet. 2023 Aug;68(8):527–32. doi: 10.1038/s10038-023-01144-2. PMID: 36959467. |