Associated Papers
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Biswas P et al.
Plos Genetics, 2021
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
28749477 (PubMed )
Supplement: gim201797x2.xlsx › Sheet1
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
Pérez-Poyato MS et al.
Journal of Inherited Metabolic Disease, 2011
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