Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect
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| Description | scientific article published on 23 April 2020 |
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author: Dan Zhang Di Huang Samuel McLenachan Abbie Adams Ian J Constable Fred K Chen Tina M Lamey Sue Fletcher Steve D Wilton Jason Charng John N De Roach Terri L McLaren Shang-Chih Chen Enid Chelva May T Aung-Htut Jennifer A Thompson |
| Publication date | April 23, 2020 |
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