Publications:

The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.

Frontiers In Genetics

Piotter, Elena E; McClements, Michelle E ME; MacLaren, Robert E RE

Publication Date: 2021

Variant appearance in text: ABCA4: 4102C>T

PubMed Link: 35154257

Variant Present in the following documents:

• Main text
• fgene-12-814131.pdf

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: ABCA4: 4102C>T; Arg1368Cys; rs1183074086

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: ABCA4: R1368C

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

Investigative Ophthalmology & Visual Science

Bertelsen, Mette M; Zernant, Jana J; Larsen, Michael M; Duno, Morten M; Allikmets, Rando R; Rosenberg, Thomas T

Publication Date: 2014-04-29

Variant appearance in text: ABCA4: 4102C>T; R1368C

PubMed Link: 24713488

Variant Present in the following documents:

• Main text

View BVdb publication page