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Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2019, Volume 95, Issue 2, pp. 329 - 333
Genetic investigations were performed in three brothers from a consanguineous union, the two oldest diagnosed with rod‐cone dystrophy (RCD), the youngest with... 
complex phenotypes | CC2D2A | inherited retinal dystrophy | whole exome sequencing | GENETICS & HEREDITY | Phenotypes | Clonal deletion | Acetylcholine receptors | Mutation | Dystrophy | Gene deletion | Proteinuria
Journal Article
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