Published in
Wiley Open Access, Molecular Genetics and Genomic Medicine, 7(8), 2020
DOI: 10.1002/mgg3.1259
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Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect
Journal article published in 2020 by
Di Huang 
,
Jennifer A. Thompson ,
Jason Charng ,
Enid Chelva ,
Samuel McLenachan ,
Shang‐Chih Chen ,
Dan Zhang ,
Terri L. McLaren ,
Tina M. Lamey ,
Ian J. Constable ,
John N. De Roach ,
May Thandar Aung‐Htut ,
Abbie Adams ,
Sue Fletcher ,
Steve D. Wilton
and other authors.
,
Jennifer A. Thompson ,
Jason Charng ,
Enid Chelva ,
Samuel McLenachan ,
Shang‐Chih Chen ,
Dan Zhang ,
Terri L. McLaren ,
Tina M. Lamey ,
Ian J. Constable ,
John N. De Roach ,
May Thandar Aung‐Htut ,
Abbie Adams ,
Sue Fletcher ,
Steve D. Wilton
and other authors.
This paper is made freely available by the publisher.
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