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Disrupted Alternative Splicing for Genes Implicated in Splicing and ...

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Disrupted Alternative Splicing for Genes Implicated in Splicing and ...

Mutations in pre-mRNA processing factors cause autosomal dominant retinitis pigmentosa. Here the authors provide insights into the pathophysiological mechanisms underlying non-syndromic retinal disease caused by heterozygous mutations in genes encoding ubiquitously expressed splicing factors.

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