Publications:

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports

Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S

Publication Date: 2022-12-02

Variant appearance in text: ABCA4: 1035T>A; Tyr345*

PubMed Link: 36460718

Variant Present in the following documents:

• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Identification of Four Novel Variants and Determination of Genotype-Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations.

Frontiers In Cell And Developmental Biology

Zhu, Qing Q; Rui, Xue X; Li, Ya Y; You, Ya Y; Sheng, Xun-Lun XL; Lei, Bo B

Publication Date: 2021

Variant appearance in text: ABCA4: Y345X

PubMed Link: 33732702

Variant Present in the following documents:

• Main text
• fcell-09-634843.pdf

View BVdb publication page