Associated Papers
Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants.
Luo X et al.
Journal of Translational Medicine, 2025
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
Kimchi A et al.
Ophthalmology, 2018
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Haer-Wigman L et al.
Human Molecular Genetics, 2015
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