health

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa - Nature

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.

Source:Nature.com
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De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa - Nature
  • Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland Mathieu Quinodoz, Karolina Kaminska, Ana Belén Iglesias-Romero, Mukhtar Ullah, Marc F… [+22157 chars]

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