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Advanced filters: Author: Nick Zomer Clear advanced filters

  • De novo and inherited dominant variants in genes encoding U4 and U6 small nuclear RNAs are identified in individuals with retinitis pigmentosa. The variants cluster at nucleotide positions distinct from those implicated in neurodevelopmental disorders.

    • Mathieu Quinodoz
    • Kim Rodenburg
    • Carlo Rivolta
    ResearchOpen Access
    Nature Genetics
    Volume: 58, P: 169-179