Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss
AGBL5基因的变异是导致常染色体隐性遗传性视网膜色素变性伴听力丧失的原因。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01768-8
Karali, Marianthi; García-García, Gema; Kaminska, Karolina; AlTalbishi, Alaa; Cancellieri, Francesca; Testa, Francesco; Barillari, Maria Rosaria; Panagiotou, Evangelia S; Psillas, George; Vaclavik, Veronika; Tran, Viet H; Janeschitz-Kriegl, Lucas; Scholl, Hendrik Pn; Salameh, Manar; Barberán-Martínez, Pilar; Rodríguez-Muñoz, Ana; Armengot, Miguel; Scarpato, Margherita; Zeuli, Roberta; Quinodoz, Mathieu; Simonelli, Francesca; Rivolta, Carlo; Banfi, Sandro; Millán, José M
