Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
Npj Genomic Medicine
Iancu, Ionut-Florin IF; Avila-Fernandez, Almudena A; Arteche, Ana A; Trujillo-Tiebas, Maria Jose MJ; Riveiro-Alvarez, Rosa R; Almoguera, Berta B; Martin-Merida, Inmaculada I; Del Pozo-Valero, Marta M; Perea-Romero, Irene I; Corton, Marta M; Minguez, Pablo P; Ayuso, Carmen C
Publication Date: 2021-02-23
Variant appearance in text: ABCA4: 2054C>T; Thr685Ile