Publications:

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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: 4538A>C

PubMed Link: 36747048

Variant Present in the following documents:

• 41588_2022_1293_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.

Bioscience Reports

Qu, Ling-Hui LH; Jin, Xin X; Zeng, Chao C; Zhou, Nian-Gou NG; Liu, Yan-Hong YH; Lin, Ye Y

Publication Date: 2021-06-25

Variant appearance in text: ABCA4: Gln1513Pro

PubMed Link: 33988224

Variant Present in the following documents:

• Main text
• bsr-41-bsr20203497.pdf

View BVdb publication page

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Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Progress In Retinal And Eye Research

Cremers, Frans P M FPM; Lee, Winston W; Collin, Rob W J RWJ; Allikmets, Rando R

Publication Date: 2020-11

Variant appearance in text: ABCA4: 4538A>C

PubMed Link: 32278709

Variant Present in the following documents:

• Main text
• nihms-1627942.pdf

View BVdb publication page

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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: 4538A>C

PubMed Link: 29162642

Variant Present in the following documents:

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

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: ABCA4: Q1513P

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.

Molecular Vision

Roberts, Lisa J LJ; Nossek, Christel A CA; Greenberg, L Jacquie LJ; Ramesar, Rajkumar S RS

Publication Date: 2012

Variant appearance in text: ABCR: Gln1513Pro

PubMed Link: 22328824

Variant Present in the following documents:

• Main text
• mv-v18-280.pdf

View BVdb publication page

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