IJMS | Free Full-Text | Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families
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A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants | Human Genome Variation
PDF] Cone-rod dystrophy with serpentine-like retinal deposits. | Semantic Scholar
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