#spliceosome — Thursday, January 01, 2026 (2 items)
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Small nuclear RNA genes in Mendelian disorders.
(nature.com)
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Nature Genetics 2026-01-01 | #splicing #variants #neurodevelopmental #spliceosome #mendelian | |
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De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
(nature.com)
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Nature Genetics 2026-01-01 | #variants #spliceosome #ncrna #retinitis pigmentosa #genetic disorder |