Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype - Esteve-Garcia, Anna; Cobos, Estefania; Sau, Cristina; Padró-Miquel, Ariadna; Català-Mora, Jaume; Barberán-Martínez, Pilar; Millán, José M.; García-García, Gema; Aguilera, Cinthia (Frontiers in genetics, 2024)
Keywords: atypical phenotype; Genetics; inherited retinal dystrophy; minigene splice assay; TULP1; whole-exome sequencing; atypical phenotype; TULP1; minigene splice assay; whole-exome sequencing; inherited retinal dystrophy