Publications:

SpliceVault predicts the precise nature of variant-associated mis-splicing.

Nature Genetics

Dawes, Ruebena R; Bournazos, Adam M AM; Bryen, Samantha J SJ; Bommireddipalli, Shobhana S; Marchant, Rhett G RG; Joshi, Himanshu H; Cooper, Sandra T ST

Publication Date: 2023-02-06

Variant appearance in text: ABCA4: 2382+5G>C

PubMed Link: 36747048

Variant Present in the following documents:

• 41588_2022_1293_MOESM3_ESM.xlsx, sheet 3

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ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

Genome Research

Sangermano, Riccardo R; Khan, Mubeen M; Cornelis, Stéphanie S SS; Richelle, Valerie V; Albert, Silvia S; Garanto, Alejandro A; Elmelik, Duaa D; Qamar, Raheel R; Lugtenberg, Dorien D; van den Born, L Ingeborgh LI; Collin, Rob W J RWJ; Cremers, Frans P M FPM

Publication Date: 2018-01

Variant appearance in text: STGD1: 2382+5G>C

PubMed Link: 29162642

Variant Present in the following documents:

• Main text
• supp_gr.226621.117_Supplemental_Fig_S3.pdf
• supp_gr.226621.117_Supplemental_Table_S2.pdf
• supp_gr.226621.117_Supplemental_Table_S4_.pdf
• supp_gr.226621.117_Supplemental_Fig_S2_.pdf
• supp_gr.226621.117_Supplemental_Table_S12_.pdf
• 100.pdf

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Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

Ophthalmology

Riveiro-Alvarez, Rosa R; Lopez-Martinez, Miguel-Angel MA; Zernant, Jana J; Aguirre-Lamban, Jana J; Cantalapiedra, Diego D; Avila-Fernandez, Almudena A; Gimenez, Ascension A; Lopez-Molina, Maria-Isabel MI; Garcia-Sandoval, Blanca B; Blanco-Kelly, Fiona F; Corton, Marta M; Tatu, Sorina S; Fernandez-San Jose, Patricia P; Trujillo-Tiebas, Maria-Jose MJ; Ramos, Carmen C; Allikmets, Rando R; Ayuso, Carmen C

Publication Date: 2013-11

Variant appearance in text: STGD: 2382+5G>C

PubMed Link: 23755871

Variant Present in the following documents:

• Main text

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