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fuchs endothelial corneal dystrophy (2) 2
index medicus (2) 2
triplet repeat-mediated disease (2) 2
aberrant splicing (1) 1
aged (1) 1
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amplification-free sequencing (1) 1
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posterior polymorphous corneal dystrophy type 3 (1) 1
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European Journal of Human Genetics, ISSN 1018-4813, 2019
Name of the disease (synonyms) CUGC for posterior polymorphous corneal dystrophy (PPCD). OMIM# of the disease 122000; 609141; 618031. Name of the analysed... 
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 9, pp. 2092 - 2102
To demonstrate the utility of an amplification-free long-read sequencing method to characterize the Fuchs endothelial corneal dystrophy (FECD)-associated... 
somatic mosaicism | amplification-free sequencing | Fuchs endothelial corneal dystrophy | triplet repeat-mediated disease | no-amp targeted sequencing | CRISPR | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2018, Volume 102, Issue 4, pp. 528 - 539
Journal Article
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