Publications:

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.

Genes

Song, Fei F; Owczarek-Lipska, Marta M; Ahmels, Tim T; Book, Marius M; Aisenbrey, Sabine S; Menghini, Moreno M; Barthelmes, Daniel D; Schrader, Stefan S; Spital, Georg G; Neidhardt, John J

Publication Date: 2021-08-20

Variant appearance in text: ABCA4: 4539+1770C>A

PubMed Link: 34440443

Variant Present in the following documents:

• Main text
• genes-12-01269.pdf

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Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Investigative Ophthalmology & Visual Science

Schulz, Heidi L HL; Grassmann, Felix F; Kellner, Ulrich U; Spital, Georg G; Rüther, Klaus K; Jägle, Herbert H; Hufendiek, Karsten K; Rating, Philipp P; Huchzermeyer, Cord C; Baier, Maria J MJ; Weber, Bernhard H F BH; Stöhr, Heidi H

Publication Date: 2017-01-01

Variant appearance in text: ABCA4: 4539+1770C>A

PubMed Link: 28118664

Variant Present in the following documents:

• iovs-57-15-69_s04.pdf

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