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issn 2324-9269
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publicationName Molecular Genetics & Genomic Medicine
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bibliographicCitation Huang D, Thompson JA, Charng J, Chelva E, McLenachan S, Chen SC, Zhang D, McLaren TL, Lamey TM, Constable IJ, De Roach JN, Aung-Htut MT, Adams A, Fletcher S, Wilton SD, Chen FK. Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect. Mol Genet Genomic Med. 2020 Jul;8(7):e1259. PMID: 32627976; PMCID: PMC7336727.
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date 2020-04-23-04:00^^<http://www.w3.org/2001/XMLSchema#date>
identifier https://pubmed.ncbi.nlm.nih.gov/32627976
https://doi.org/10.1002/mgg3.1259
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language English
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title 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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Total number of triples: 54.