Associated Papers
Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report.
Baltar F et al.
Frontiers in Pediatrics, 2024
Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes.
Kolesnikova M et al.
Investigative Ophthalmology & Visual Science, 2023
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
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