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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
Journal Article
World Allergy Organization Journal, ISSN 1939-4551, 2016, Volume 9, p. 14
Journal Article
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